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Journal articles on the topic 'Syndromic microphthalmia'

Author: Grafiati

Published: 3 May 2025

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1

Plaisancié, J., F. Ceroni, R. Holt, C. Zazo Seco, P. Calvas, N. Chassaing, and Nicola K. Ragge. "Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia." Human Genetics 138, no. 8-9 (February 14, 2019): 799–830. http://dx.doi.org/10.1007/s00439-019-01977-y.

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2

Johnston, Jennifer J., Kathleen A. Williamson, Christopher M. Chou, Julie C. Sapp, Morad Ansari, Heather M. Chapman, David N. Cooper, et al. "NAA10 polyadenylation signal variants cause syndromic microphthalmia." Journal of Medical Genetics 56, no. 7 (March 6, 2019): 444–52. http://dx.doi.org/10.1136/jmedgenet-2018-105836.

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BackgroundA single variant in NAA10 (c.471+2T>A), the gene encoding N-acetyltransferase 10, has been associated with Lenz microphthalmia syndrome. In this study, we aimed to identify causative variants in families with syndromic X-linked microphthalmia.MethodsThree families, including 15 affected individuals with syndromic X-linked microphthalmia, underwent analyses including linkage analysis, exome sequencing and targeted gene sequencing. The consequences of two identified variants in NAA10 were evaluated using quantitative PCR and RNAseq.ResultsGenetic linkage analysis in family 1 supported a candidate region on Xq27-q28, which included NAA10. Exome sequencing identified a hemizygous NAA10 polyadenylation signal (PAS) variant, chrX:153,195,397T>C, c.*43A>G, which segregated with the disease. Targeted sequencing of affected males from families 2 and 3 identified distinct NAA10 PAS variants, chrX:g.153,195,401T>C, c.*39A>G and chrX:g.153,195,400T>C, c.*40A>G. All three variants were absent from gnomAD. Quantitative PCR and RNAseq showed reduced NAA10 mRNA levels and abnormal 3′ UTRs in affected individuals. Targeted sequencing of NAA10 in 376 additional affected individuals failed to identify variants in the PAS.ConclusionThese data show that PAS variants are the most common variant type in NAA10-associated syndromic microphthalmia, suggesting reduced RNA is the molecular mechanism by which these alterations cause microphthalmia/anophthalmia. We reviewed recognised variants in PAS associated with Mendelian disorders and identified only 23 others, indicating that NAA10 harbours more than 10% of all known PAS variants. We hypothesise that PAS in other genes harbour unrecognised pathogenic variants associated with Mendelian disorders. The systematic interrogation of PAS could improve genetic testing yields.

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3

Ng, David, Donald W. Hadley, Cynthia J. Tifft, and Leslie G. Biesecker. "Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: Is Lenz microphthalmia a single disorder?" American Journal of Medical Genetics 110, no. 4 (June 27, 2002): 308–14. http://dx.doi.org/10.1002/ajmg.10484.

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4

Courdier, Cécile, Anna Gemahling, Damien Guindolet, Amandine Barjol, Claire Scaramouche, Laurence Bouneau, Patrick Calvas, Gilles Martin, Nicolas Chassaing, and Julie Plaisancié. "EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia." European Journal of Medical Genetics 65, no. 10 (October 2022): 104574. http://dx.doi.org/10.1016/j.ejmg.2022.104574.

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5

Eintracht, Jonathan, Marta Corton, David FitzPatrick, and Mariya Moosajee. "CUGC for syndromic microphthalmia including next-generation sequencing-based approaches." European Journal of Human Genetics 28, no. 5 (January 2, 2020): 679–90. http://dx.doi.org/10.1038/s41431-019-0565-4.

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6

Zahrani, Fatema, Mohammed A. Aldahmesh, Muneera J. Alshammari, Selwa A. F. Al-Hazzaa, and Fowzan S. Alkuraya. "Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia." American Journal of Human Genetics 92, no. 3 (March 2013): 387–91. http://dx.doi.org/10.1016/j.ajhg.2013.01.008.

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7

Apam-Garduño, David, Vianney Cortés-González, Luis Quintana-Fernández, Daniel Martínez-Anaya, Patricia Pérez-Vera, and Cristina Villanueva-Mendoza. "The relevance of the cytogenetic analysis in syndromic microphthalmia/anophthalmia." Ophthalmic Genetics 40, no. 6 (November 2, 2019): 584–87. http://dx.doi.org/10.1080/13816810.2019.1698618.

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8

Schimmenti, Lisa A., June de la Cruz, Richard Alan Lewis, J. D. Karkera, Glenda S. Manligas, Erich Roessler, and Maximilian Muenke. "Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia." American Journal of Medical Genetics 116A, no. 3 (December 26, 2002): 215–21. http://dx.doi.org/10.1002/ajmg.a.10884.

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9

Faiyaz-Ul-Haque, M., SHE Zaidi, MS Al-Mureikhi, I. Peltekova, L.-C. Tsui, and AS Teebi. "Mutations in theCHX10gene in non-syndromic microphthalmia/anophthalmia patients from Qatar." Clinical Genetics 72, no. 2 (July 5, 2007): 164–66. http://dx.doi.org/10.1111/j.1399-0004.2007.00846.x.

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10

Kraus, Cornelia, Steffen Uebe, Christian T. Thiel, Arif B. Ekici, André Reis, and Christiane Zweier. "Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu." American Journal of Medical Genetics Part A 176, no. 12 (November 18, 2018): 2872–76. http://dx.doi.org/10.1002/ajmg.a.40640.

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11

Brady, Paul D., Hilde Van Esch, Nathalie Fieremans, Guy Froyen, Anne Slavotinek, Jan Deprest, Koenraad Devriendt, and Joris R. Vermeesch. "Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia." European Journal of Human Genetics 23, no. 4 (July 16, 2014): 551–54. http://dx.doi.org/10.1038/ejhg.2014.135.

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12

Liu, Y., Q. Wu, and L. Wang. "EP04.11: Prenatal diagnosis and genetic counselling of fetal non‐syndromic microphthalmia and anophthalmia." Ultrasound in Obstetrics & Gynecology 62, S1 (October 2023): 125. http://dx.doi.org/10.1002/uog.26684.

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13

Richardson, Rose, Jane Sowden, Christina Gerth-Kahlert, Anthony T. Moore, and Mariya Moosajee. "Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches." European Journal of Human Genetics 25, no. 4 (January 18, 2017): 512. http://dx.doi.org/10.1038/ejhg.2016.201.

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14

Somashekar, Puneeth H., Anju Shukla, and Katta M. Girisha. "Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2." Ophthalmic Genetics 38, no. 6 (April 7, 2017): 533–36. http://dx.doi.org/10.1080/13816810.2017.1301967.

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15

Vendramini-Pittoli, Siulan, Rosana Maria Candido-Souza, Rodrigo Gonçalves Quiezi, Roseli Maria Zechi-Ceide, Nancy Mizue Kokitsu-Nakata, Fernanda Sarquis Jehee, Lucilene Arilho Ribeiro-Bicudo, David R. FitzPatrick, Maria Leine Guion-Almeida, and Antonio Richieri-Costa. "Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2." Journal of Pediatric Genetics 09, no. 04 (January 3, 2020): 258–62. http://dx.doi.org/10.1055/s-0039-3402047.

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AbstractThe authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis of corpus callosum, cleft palate, enamel defects, and genitourinary anomalies, which are rarely reported within the clinical spectrum of MLS. The 11,5 Mb deletion in Xp22.3p22.2 observed in the patient includes the entire HCCS gene (responsible for the MLS phenotype) and also encompasses several other genes involved with behavioral phenotypes, craniofacial and central nervous system development such as MID1, NLGN4X, AMELX, ARHGAP6, and TBL1X. The whole clinical features of our proband possibly represents an unusual MLS syndromic phenotype caused by an Xp22.3p22.2 continuous gene deletion.

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Ramirez-Botero, Andrés Felipe, and Harry Pachajoa. "Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient." Congenital Anomalies 56, no. 6 (November 2016): 250–52. http://dx.doi.org/10.1111/cga.12170.

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17

Wang, Qiwei, Tingfeng Qin, Xun Wang, Jing Li, Xiaoshan Lin, Dongni Wang, Zhuoling Lin, et al. "Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome." Genes 13, no. 12 (December 14, 2022): 2364. http://dx.doi.org/10.3390/genes13122364.

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Warburg Micro syndrome (WARBM) is an autosomal recessive neuro-ophthalmologic syndrome characterized by microcephaly, microphthalmia, congenital cataracts, cortical dysplasia, corpus callosum hypoplasia, spasticity, and hypogonadism. WARBM is divided into four subtypes according to the causative genes, of which RAB3GAP1 (OMIM# 602536) accounts for the highest proportion. We collected detailed medical records and performed whole-exome sequencing (WES) for a congenital cataract patient. A novel heterozygous frameshift RAB3GAP1 variant was detected in a boy with a rare ocular phenotype of bilateral membranous cataracts accompanied by a persistent papillary membrane. Further copy number variation (CNV) analysis identified a novel deletion on chromosome 2q21.3 that removed 4 of the 24 exons of RAB3GAP1. The patient was diagnosed with WARBM following genetic testing. The present study expands the genotypic and phenotypic spectrum of WARBM. It suggests applying whole exome sequencing (WES) and CNV analysis for the early diagnosis of syndromic diseases in children with congenital cataracts.

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18

Wawrocka, Anna, Joanna Walczak‐Sztulpa, Marta Pawlak, Anna Gotz‐Wieckowska, and Maciej R. Krawczynski. "Non‐syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X‐linked recessive manner." American Journal of Medical Genetics Part A 185, no. 1 (October 27, 2020): 250–55. http://dx.doi.org/10.1002/ajmg.a.61938.

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19

Plaisancié, Julie, Bertrand Chesneau, Lucas Fares-Taie, Jean-Michel Rozet, Jacmine Pechmeja, Julien Noero, Véronique Gaston, Isabelle Bailleul-Forestier, Patrick Calvas, and Nicolas Chassaing. "Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia." International Journal of Molecular Sciences 25, no. 5 (February 25, 2024): 2669. http://dx.doi.org/10.3390/ijms25052669.

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Ocular malformations (OMs) arise from early defects during embryonic eye development. Despite the identification of over 100 genes linked to this heterogeneous group of disorders, the genetic cause remains unknown for half of the individuals following Whole-Exome Sequencing. Diagnosis procedures are further hampered by the difficulty of studying samples from clinically relevant tissue, which is one of the main obstacles in OMs. Whole-Genome Sequencing (WGS) to screen for non-coding regions and structural variants may unveil new diagnoses for OM individuals. In this study, we report a patient exhibiting a syndromic OM with a de novo 3.15 Mb inversion in the 6p25 region identified by WGS. This balanced structural variant was located 100 kb away from the FOXC1 gene, previously associated with ocular defects in the literature. We hypothesized that the inversion disrupts the topologically associating domain of FOXC1 and impairs the expression of the gene. Using a new type of samples to study transcripts, we were able to show that the patient presented monoallelic expression of FOXC1 in conjunctival cells, consistent with the abolition of the expression of the inverted allele. This report underscores the importance of investigating structural variants, even in non-coding regions, in individuals affected by ocular malformations.

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20

Schwaibold, Eva Maria Christina, Melanie Brugger, and Matias Wagner. "A C‐terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR ‐associated syndromic microphthalmia." Clinical Genetics 100, no. 4 (July 26, 2021): 489–90. http://dx.doi.org/10.1111/cge.14034.

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21

Hmani-Aifa, Mounira, Salma Ben Salem, Zeineb Benzina, Walid Bouassida, Riadh Messaoud, Khalil Turki, Moncef Khairallah, et al. "A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1." Human Genetics 126, no. 4 (June 14, 2009): 575–87. http://dx.doi.org/10.1007/s00439-009-0688-8.

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22

Morreale, P., S. Amato, P. Mannino, M. Sanfilippo, C. Comparato, and G. Scardino. "P53 DOUBLE OUTLET RIGHT VENTRICLE IN PATIENT WITH XP11.23 DUPLICATION AND SYNDROMIC PHENOTYPE: BROADENING OF THE CLINICAL SPECTRUM." European Heart Journal Supplements 25, Supplement_D (May 2023): D60. http://dx.doi.org/10.1093/eurheartjsupp/suad111.139.

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Abstract DORV accounts for 2–3% of congenital heart disease (prevalence of 1/10,000). It is a cono–truncal anomaly with variable clinic. In 25–42.5% of cases there are chromosomal anomalies such as trisomy 13, 18, 22q11 microdeletion and possible associated anomalies such as facial and skeletal dysmorphisms, brain anomalies and renal agenesis. duplication Xp11.22–p11.23 was described in 2009 by Giorda and is characterized by intellectual disabilities, speech delay, epilepsy, and EEG abnormalities. We report the case of a patient with dupXp11.23 and major anomalies not reported in the literature. C.B. born from 1st pregnancy at 32+4 w, by cesarean section for fetal bradycardia and polyamnios; At first trimester screening, finding of large ventricular defect and high risk for trisomy 18 and 13. Non–resolving fetal DNA and normal 46XY karyotype. At birth weighing 1750 g, APGAR 1‘:3, 5‘:7,10‘: 8, he was intubated and transferred to intensive care. On physical examination: prominent frontal bumps, facial asymmetry with right hypoplasia, anterior plagiocephaly, microphthalmia, low–set left ear, large both pinnae, macroglossia, hypospadias. He underwent surgery for duodenal atresia and Meckel‘s diverticulum. In the following days poor clinical conditions, poor growth and manifestations of heart decompensation. On auscultation II tone of increased intensity, meso–pulmonary systolic murmur, hepatomegaly. The electrocardiogram showed normal sinus rhythm and signs of left ventricular hypertrophy. On echocardiogram Situs solitus –D loop Levocardia. Patent foramen ovale with middle left–right shunt, dilated left atrium, globular left ventricle, preserved systolic function. Poorly aligned arterial outflows emerging from the right ventricle. Large subpulmonary interventricular defect. Hyperflow flowmetry. Aortic arch dilated in the proximal tract. He therefore started therapy with furosemide. Subsequent monitoring showed poor growth for which cardiac surgery was indicated. This case report contributes to broadening the clinical spectrum of duplication syndrome Xp11.22–p11.23.

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23

Parekh, Bela, Adelyn Beil, Bridget Blevins, Adam Jacobson, Pamela Williams, Jeffrey W. Innis, Amanda Barone Pritchard, and Lev Prasov. "Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic." Genes 14, no. 3 (March 15, 2023): 726. http://dx.doi.org/10.3390/genes14030726.

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The Multidisciplinary Ophthalmic Genetics Clinic (MOGC) at the University of Michigan Kellogg Eye Center aims to provide medical and ophthalmic genetics care to patients with inherited ocular conditions. We have developed a clinical and referral workflow where each patient undergoes coordinated evaluation by our multidisciplinary team followed by discussions on diagnosis, prognosis, and genetic testing. Testing approaches are specific to each patient and can be targeted (single-gene, gene panel), broad (chromosomal microarray, whole-exome sequencing), or a combination. We hypothesize that this clinic model improves patient outcomes and quality of care. A retrospective chart review of patients in the MOGC from July 2020 to October 2022 revealed that the most common referral diagnoses were congenital cataracts, optic neuropathy, and microphthalmia, with 52% syndromic cases. Within this patient cohort, we saw a 76% uptake for genetic testing, among which 33% received a diagnostic test result. Our results support a tailored approach to genetic testing for specific conditions. Through case examples, we highlight the power and impact of our clinic. By integrating ophthalmic care with medical genetics and counseling, the MOGC has not only helped solve individual patient diagnostic challenges but has aided the greater population in novel genetic discoveries and research towards targeted therapeutics.

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24

Tenenbaum-Rakover, Yardena, Osnat Admoni, Ghadir Elias-Assad, Shira London, Marie Noufi-Barhoum, Hanna Ludar, Tal Almagor, et al. "The evolving role of whole-exome sequencing in the management of disorders of sex development." Endocrine Connections 10, no. 6 (June 1, 2021): 620–29. http://dx.doi.org/10.1530/ec-21-0019.

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Objective Disorders of sex development (DSD) are defined as congenital conditions in which the development of chromosomal, gonadal and anatomical sex is atypical. Despite wide laboratory and imaging investigations, the etiology of DSD is unknown in over 50% of patients. Methods We evaluated the etiology of DSD by whole-exome sequencing (WES) at a mean age of 10 years in nine patients for whom extensive evaluation, including hormonal, imaging and candidate gene approaches, had not identified an etiology. Results The eight 46,XY patients presented with micropenis, cryptorchidism and hypospadias at birth and the 46,XX patient presented with labia majora fusion. In seven patients (78%), pathogenic variants were identified for RXFP2, HSD17B3, WT1, BMP4, POR, CHD7 and SIN3A. In two atients, no causative variants were found. Mutations in three genes were reported previously with different phenotypes: an 11-year-old boy with a novel de novo variant in BMP4; such variants are mainly associated with microphthalmia and in few cases with external genitalia anomalies in males, supporting the role of BMP4 in the development of male external genitalia; a 12-year-old boy with a known pathogenic variant in RXFP2, encoding insulin-like 3 hormone receptor, and previously reported in adult men with cryptorchidism; an 8-year-old boy with syndromic DSD had a de novo deletion in SIN3A. Conclusions Our findings of molecular etiologies for DSD in 78% of our patients indicate a major role for WES in early DSD diagnosis and management – and highlights the importance of rapid molecular diagnosis in early infancy for sex of rearing decisions.

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25

Martens, Helge, Imke Hennies, Maike Getwan, Anne Christians, Anna-Carina Weiss, Frank Brand, Ann Christin Gjerstad, et al. "Rare heterozygous GDF6 variants in patients with renal anomalies." European Journal of Human Genetics 28, no. 12 (July 31, 2020): 1681–93. http://dx.doi.org/10.1038/s41431-020-0678-9.

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AbstractAlthough over 50 genes are known to cause renal malformation if mutated, the underlying genetic basis, most easily identified in syndromic cases, remains unsolved in most patients. In search of novel causative genes, whole-exome sequencing in a patient with renal, i.e., crossed fused renal ectopia, and extrarenal, i.e., skeletal, eye, and ear, malformations yielded a rare heterozygous variant in the GDF6 gene encoding growth differentiation factor 6, a member of the BMP family of ligands. Previously, GDF6 variants were reported to cause pleiotropic defects including skeletal, e.g., vertebral, carpal, tarsal fusions, and ocular, e.g., microphthalmia and coloboma, phenotypes. To assess the role of GDF6 in the pathogenesis of renal malformation, we performed targeted sequencing in 193 further patients identifying rare GDF6 variants in two cases with kidney hypodysplasia and extrarenal manifestations. During development, gdf6 was expressed in the pronephric tubule of Xenopus laevis, and Gdf6 expression was observed in the ureteric tree of the murine kidney by RNA in situ hybridization. CRISPR/Cas9-derived knockout of Gdf6 attenuated migration of murine IMCD3 cells, an effect rescued by expression of wild-type but not mutant GDF6, indicating affected variant function regarding a fundamental developmental process. Knockdown of gdf6 in Xenopus laevis resulted in impaired pronephros development. Altogether, we identified rare heterozygous GDF6 variants in 1.6% of all renal anomaly patients and 5.4% of renal anomaly patients additionally manifesting skeletal, ocular, or auricular abnormalities, adding renal hypodysplasia and fusion to the phenotype spectrum of GDF6 variant carriers and suggesting an involvement of GDF6 in nephrogenesis.

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26

Andrysikova, Radka, Titus Sydler, Dolf Kümmerlen, Wolfgang Pendl, Robert Graage, Romana Moutelikova, Jana Prodelalova, and Katrin Voelter. "Congenital Microphthalmic Syndrome in a Swine." Case Reports in Veterinary Medicine 2018 (June 21, 2018): 1–6. http://dx.doi.org/10.1155/2018/2051350.

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A 17-week-old crossbred finishing pig was presented for lameness of approximately one week. Clinical evaluation, including ophthalmologic examination, revealed ataxia, partial flaccid paresis of the pelvic limbs, skin lesions at feet and claws, and severely reduced vision/blindness. Both eyes had multiple persistent pupillary membranes (iris-to-iris and iris-to-lens) and hypermature cataracts. Histopathological examination of the eyes revealed microphthalmia, microphakia with cataract formation, myovascularised membrane in the vitreous, retinal detachment, and retinal dysplasia. Microscopic examination of tissues collected postmortem demonstrated nonsuppurative polioencephalomyelitis with the most prominent inflammatory lesions in the lumbar spinal cord. Subsequently, presumed Teschen/Talfan disease was confirmed by porcine teschovirus identification in the spinal cord using the reverse transcription-polymerase chain reaction (RT-PCR). To the authors’ knowledge, this is the first case report describing in detail histopathological changes in the porcine congenital microphthalmic syndrome.

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Slavotinek, Anne. "Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia–microphthalmia." Human Genetics 138, no. 8-9 (October 30, 2018): 831–46. http://dx.doi.org/10.1007/s00439-018-1949-1.

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28

Kruglova, Tatyana B., Naira S. Egyan, and Elena N. Demchenko. "Congenital cataract associated with COVID-19 infection." Russian Pediatric Ophthalmology 18, no. 4 (December 16, 2023): 205–12. http://dx.doi.org/10.17816/rpoj595867.

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AIM: To describe cases of COVID-19-induced congenital pathology of the lens and eye in children. MATERIALS AND METHODS: Nine children (9 eyes) aged 3–6 months with congenital cataract (СC), whose mothers had COVID-19 during pregnancy, were examined. RESULTS: All children had unilateral CC, with heterogeneous turbidity. Changes in the shape, volume, and structure of the capsule sac were often combined with microphthalmia (66.7%) and primary persistent vitreous body syndrome (PPGST) (88.9%). CONCLUSION: The results revealed the possibility of the unilateral development congenital pathology of the lens with the presence of concomitant pathology: microphthalmos, PPGST syndrome in children born to mothers who had SARS-CoV-2 infection during pregnancy. Given the risk of transplacental transmission of the coronavirus from a pregnant woman to a fetus with СC development, these children need a more detailed examination in the first month of life for timely detection of pathology and provision of treatment. Surgical treatment of this pathology often requires a nonstandard individual approach to each stage of the operation and management of the postoperative period.

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Wavreille, O., C. François Fiquet, O. Abdelwahab, E. Laumonier, A. Wolber, P. Guerreschi, and P. Pellerin. "Surgical and prosthetic treatment for microphthalmia syndromes." British Journal of Oral and Maxillofacial Surgery 51, no. 2 (March 2013): e17-e21. http://dx.doi.org/10.1016/j.bjoms.2012.02.018.

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30

Mendiratta, Vibhu, and Anukriti Yadav. "Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome: A Case Report and Review of Literature." Indian Journal of Paediatric Dermatology 24, no. 4 (2023): 311–13. http://dx.doi.org/10.4103/ijpd.ijpd_31_23.

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Abstract Microphthalmia, dermal aplasia, and sclerocornea (MIDAS) syndrome is a rare syndrome manifesting at birth with a wide variety of abnormalities which include microphthalmia and/or anophthalmia, sclerocornea, linear skin defects with dermal aplasia limited to the face and neck, ocular abnormalities, central nervous system involvement, cardiac anomalies, hearing impairment, and genitourinary malformations. This report describes MIDAS syndrome in a 6-day-old female neonate who presented with multiple erosions with crusted plaques over the face and neck since birth and bilateral microphthalmia with microcornea with corneal opacity.

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TEEBI, AHMAD S., and TALAAT I. FARAG. "Macrosomia, Microphthalmia, and Early Rapid or Sudden Infant Death: A New Syndrome?" Pediatrics 83, no. 4 (April 1, 1989): 647–48. http://dx.doi.org/10.1542/peds.83.4.647.

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Macrosomia together with macroglossia and omphalocele permits the recognition of Beckwith-Wiedemann syndrome which is frequently observed in sporadic occurrence and occasionally as an autosomal dominant disorder. However, macrosomia may be also a part of several clinically recognizable overgrowth syndromes such as cerebral gigantism, Smith-Marshall syndrome, and Weaver syndrome. Recently, we observed a female infant with macrosomia (birth weight 4,650 g, length 52 cm), bilateral severe microphthalmia, frequent cyanotic spells with apnea, and an early death at 43 days due to overwhelming illness.

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LaCour, Matthew. "Geometric Facial Erosions on a Newborn." SKIN The Journal of Cutaneous Medicine 3, no. 2 (March 11, 2019): 98–101. http://dx.doi.org/10.25251/skin.3.2.43.

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When a newborn exhibits dermal aplasia on the face and neck, especially if there are ocular anomalies, further investigation is needed to determine if they have MiDAS (microphthalmia, dermal aplasia, and sclerocornea) or other syndromes with associated skin findings. It is essential to diagnose MiDAS syndrome early in life to allow for thorough workup to determine if there are any associated abnormalities in the child that require treatment. While the skin lesions of MiDAS syndrome heal spontaneously, other associated abnormalities require early intervention and can be life threatening.

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Marfatia, Hetal, Ratna Priya, Nilam U. Sathe, and Keya Shah. "Congenital Anomalies Associated with microtia – Anotia: Review of 30 Cases." Bangladesh Journal of Otorhinolaryngology 22, no. 2 (January 23, 2020): 78–83. http://dx.doi.org/10.3329/bjo.v22i2.45092.

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Background: Microtia-anotia has a global prevalence of 2.6 per 10,000 live births. Children with microtia-anotia will have an associated anomaly or an identifiable syndrome pattern in 20–60% of cases.1 The most common anomalies are facial cleft, facial asymmetry, renal abnormalities, cardiac defects, microphthalmia, polydactyly, and vertebral anomalies. Methods: This series consists of retrospective study of 30 patients who presented to the department of ENT, KEM Hospital between January 2010 to June 2013. Case Records of patients with congenital external ear deformity who presented to the E.N.T. Department during the time period from January 2010 to June 2013 were reviewed for the grade of microtia. The patients were also evaluated for associated congenital anomalies. Results: Associated anomalies in patients included facial paralysis, unilateral renal agenesis, congenital heart diseases, Cleft palate, microphthalmia, microcornea, iris coloboma, hemivertebra. Also Goldenhar syndrome / Hemifacial microsomia, Treacher- Collin syndrome and Pierre- Robin syndrome were the related syndromes to congenital external ear deformity in our series. Conclusion: Congenital external deformities may be associated with spectrum of other anomalies and the patient should receive best coordinated care from otolaryngologists, audiologists, paediatricians, heart specialist to improve the quality of life. Early hearing assessment should be followed by proper rehabilitation for adequate speech and language development. Bangladesh J Otorhinolaryngol; October 2016; 22(2): 78-83

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Monticelli, Matteo, Raffaele De Marco, and Diego Garbossa. "Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature." Child's Nervous System 37, no. 8 (January 25, 2021): 2713–18. http://dx.doi.org/10.1007/s00381-020-05035-1.

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AbstractLenz microphthalmia syndrome (LMS) is an allelic X-linked syndrome correlated to a null mutation of B cell lymphoma (BCL-6) corepressor (BCOR) gene, which is essential in the early embryonic development. Phenotypically, this rare hereditary syndrome is characterized by microphthalmia/anophthalmia and other eye disorders; mental disability; dental, ear, and digital abnormalities; and variable malformations affecting the heart, skeleton (limbs and/or spine), and genitourinary tract. In this paper, a case of a young adult with LMS affected additionally by immuno-hematological disturbances was treated with decompressive craniectomy after domestic accidental fall. Case description and a brief review of the current literature about this rare condition are presented here.

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Ragge, Nicola, Bertrand Isidor, Pierre Bitoun, Sylvie Odent, Irina Giurgea, Benjamin Cogné, Wallid Deb, et al. "Expanding the phenotype of the X-linked BCOR microphthalmia syndromes." Human Genetics 138, no. 8-9 (July 4, 2018): 1051–69. http://dx.doi.org/10.1007/s00439-018-1896-x.

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Sudovskaya, T. V., N. Sh Kokoeva, Yu A. Bobrovskaya, and A. A. Makarova. "THE CLINICAL CASES OF PALLISTER-KILLIANS’S SYNDROME IN A CHILD." Russian Pediatric Ophthalmology 12, no. 3 (September 15, 2017): 163–65. http://dx.doi.org/10.18821/1993-1859-2017-12-3-163-165.

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This article was designed to report a clinical case of a rare syndromic disease - Pallister-Killians’s syndrome characterized by the signs of mental deficiency, abnormal features of cranial bones , congenitally reduced arterial pressure, multiple abnormalities of the facial features (including the eyes and the mouth cavity), ears, skeleton, the cardiovascular system, nervous system, and other systems of the body. The syndrome was described for the first time in 1977 by Philip Pallister and thereafter investigated in more detail by Maria Teschler-Nicola and Wolfgang Killian in 1981. In our case, the somatic status of a 3 month-old child presenting with this pathological condition was characterized by a large variety of congenital defects of the nervous system, including corpus collosum hypoxia, ischemic lesions of the brain tissue, bilateral subependymal pseudocysts, lenticulostriate agniopathies, and congenital heart failure. The pathological changes of the visual analyzer manifested themselves as unilateral grade 3 microphthalmos, sclerocornea, optic nerve disk coloboma, narrowing of the palpebral fissure, considerable decrease of the size of the conjunctival cavity in the absence of the appreciable alterations in the eye ball. Rehabilitation of the affected child with congenital microphthalmos included gradual ocular prosthetics and the treatment by the specialists of other medical professions.

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Jayasinghe, Caren, Ulrich Gembruch, Klaus Kuchelmeister, Friederike Körber, and Annette M. Müller. "Fryns Anophthalmia-Plus Syndrome in an 18-Week-Old Fetus." Pediatric and Developmental Pathology 15, no. 1 (January 2012): 58–61. http://dx.doi.org/10.2350/10-07-0880-cr.1.

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Fryns anophthalmia-plus syndrome is a very rare condition initially described by Fryns and colleagues in 1995 in a pair of siblings of nonconsanguineous parents. Since that time, only a few cases have been reported, most of them in newborns and young children. Clinical presentation is variable and includes anophthalmia/microphthalmia, cleft lip/palate, and other facial deformities. Furthermore, skeletal, central nervous system, and endocrine anomalies have been described. We report the case of a male fetus of 18 weeks of gestation with normal karyotype and findings matching Fryns anophthalmia-plus syndrome. Pregnancy was terminated because of sonographically proven facial midline defects and a marked cerebral ventriculomegaly. Macroscopic and histological findings obtained at autopsy showed extreme bilateral microphthalmia, unilateral cleft palate, unilateral nasal deformity, and low-set ears. Skeletal anomalies included 13 pairs of ribs, premature ossification of the calcaneus, and talipes.

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Jonas, J. B., U. Mayer, and W. M. Budde. "Ocular Findings in Cerebro-Oculo-Facial-Skeletal Syndrome (Pena-Shokeir-II Syndrome)." European Journal of Ophthalmology 13, no. 2 (March 2003): 209–11. http://dx.doi.org/10.1177/112067210301300215.

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Purpose To report the ocular findings in cerebro-oculo-facial-skeletal syndrome or Pena-Shokeir-II syndrome. Methods Case report. Results A five-month-old male infant presented with bilateral posterior polar cataract, microphthalmos, nystagmus, and marked non-glaucomatous optic nerve atrophy. Systemic abnormalities such as microcephaly, micrognathia, flexion contractures of the elbows and knees, hypotonic musculature, and failure to thrive, with pronounced statomotor retardation, led to the diagnosis of cerebro-oculo-facial-skeletal syndrome or Pena-Shokeir-II syndrome. Cataract surgery did not improve the poor visual performance. Conclusions Cerebro-oculo-facial-skeletal syndrome (Pena-Shokeir-II syndrome) should be included in the differential diagnosis of bilateral microphthalmos, congenital cataract, nystagmus, and pronounced optic nerve atrophy, and cataract surgery does not markedly improve vision.

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Quin, Natasha. "A Rare Case Study of Microphthalmia with Anophthalmia." Canadian Journal of Medical Sonography 16, no. 1 (January 1, 2025): 14–21. https://doi.org/10.3138/cjms-2024-0011.

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Ocular malformations represent a wide spectrum of disease, ranging from reduced size or hypoplasia (microphthalmia) to complete ocular absence (anophthalmia). The incidence rate varies between 0.18 and 0.33 per 10,000 live births, with both conditions having complex etiologies, including genetic and environmental factors. Early diagnosis is crucial to provide counselling and intervention and is best achieved with pre-natal ultrasound. Multidisciplinary care, involving geneticists, obstetricians and ophthalmologists, will aim to address visual impairment, developmental delays, and associated syndromes, enhancing patient outcomes.

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García-Llorca, Andrea, Knútur Haukstein Ólafsson, Arnór Thorri Sigurdsson, and Thor Eysteinsson. "Progressive Cone-Rod Dystrophy and RPE Dysfunction in Mitfmi/+ Mice." Genes 14, no. 7 (July 17, 2023): 1458. http://dx.doi.org/10.3390/genes14071458.

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Mutations in the mouse microphthalmia-associated transcription factor (Mitf) gene affect retinal pigment epithelium (RPE) differentiation and development and can lead to hypopigmentation, microphthalmia, deafness, and blindness. For instance, an association has been established between loss-of-function mutations in the mouse Mitf gene and a variety of human retinal diseases, including Waardenburg type 2 and Tietz syndromes. Although there is evidence showing that mice with the homozygous Mitfmi mutation manifest microphthalmia and osteopetrosis, there are limited or no data on the effects of the heterozygous condition in the eye. Mitf mice can therefore be regarded as an important model system for the study of human disease. Thus, we characterized Mitfmi/+ mice at 1, 3, 12, and 18 months old in comparison with age-matched wild-type mice. The light- and dark-adapted electroretinogram (ERG) recordings showed progressive cone-rod dystrophy in Mitfmi/+ mice. The RPE response was reduced in the mutant in all age groups studied. Progressive loss of pigmentation was found in Mitfmi/+ mice. Histological retinal sections revealed evidence of retinal degeneration in Mitfmi/+ mice at older ages. For the first time, we report a mouse model of progressive cone-rod dystrophy and RPE dysfunction with a mutation in the Mitf gene.

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Ng, David, Nalin Thakker, Connie M. Corcoran, Dian Donnai, Rahat Perveen, Adele Schneider, Donald W. Hadley, et al. "Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR." Nature Genetics 36, no. 4 (March 7, 2004): 411–16. http://dx.doi.org/10.1038/ng1321.

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Kumar, Virang, Natario L. Couser, and Arti Pandya. "Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases." Case Reports in Ophthalmological Medicine 2020 (April 6, 2020): 1–16. http://dx.doi.org/10.1155/2020/6535974.

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Oculodentodigital dysplasia (ODDD) is a rare genetic disorder associated with a characteristic craniofacial profile with variable dental, limb, eye, and ocular adnexa abnormalities. We performed an extensive literature review to highlight key eye features in patients with ODDD and report a new case of a female patient with a heterozygous missense GJA1 mutation (c.65G>A, p.G22E) and clinical features consistent with the condition. Our patient presented with multiple congenital anomalies including syndactyly, microphthalmia, microcornea, retrognathia, and a small nose with hypoplastic alae and prominent columella; in addition, an omphalocele defect was present, which has not been reported in previous cases. A systematic review of the published cases to date revealed 91 literature reports of 295 individuals with ODDD. There were 73 different GJA1 mutations associated with these cases, of which the most common were the following missense mutations: c.605G>A (p.R202H) (11%), c.389T>C (p.I130T) (10%), and c.119C>T (p.A40V) (10%). Mutations most commonly affect the extracellular-1 and cytoplasmic-1 domains of connexin-43 (gene product of GJA1), predominately manifesting in microphthalmia and microcornea. The syndrome appears with an approximately equal sex ratio. The most common eye features reported among all mutations were microcornea, microphthalmia, short palpebral fissures, and glaucoma.

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Pierson, Diane M., Antonio Subtil, Eugenio Taboada, and Merlin G. Butler. "Newborn with Anophthalmia and Features of Fryns Syndrome." Pediatric and Developmental Pathology 5, no. 6 (November 2002): 592–96. http://dx.doi.org/10.1007/s10024-002-2106-2.

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We report a newborn female with craniofacial malformations, bilateral anophthalmia, large abnormally shaped ears, short neck, small distal phalanges and nails, left diaphragmatic hernia, hypoplastic optic nerves, severe pulmonary hypoplasia, and an accessory spleen, and describe the autopsy findings. The infant expired at 18 h of life. The features were most consistent with Fryns syndrome although other conditions were considered including Matthew Wood syndrome. Anophthalmia, to our knowledge, has not been reported previously in Fryns syndrome; however, eye findings are common, particularly microphthalmia and cloudy cornea.

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Mul, Karlien, Richard J. L. F. Lemmers, Marjolein Kriek, Patrick J. van der Vliet, Marlinde L. van den Boogaard, Umesh A. Badrising, John M. Graham, et al. "FSHD type 2 and Bosma arhinia microphthalmia syndrome." Neurology 91, no. 6 (July 6, 2018): e562-e570. http://dx.doi.org/10.1212/wnl.0000000000005958.

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ObjectiveTo determine whether congenital arhinia/Bosma arhinia microphthalmia syndrome (BAMS) and facioscapulohumeral muscular dystrophy type 2 (FSHD2), 2 seemingly unrelated disorders both caused by heterozygous pathogenic missense variants in the SMCHD1 gene, might represent different ends of a broad single phenotypic spectrum associated with SMCHD1 dysfunction.MethodsWe examined and/or interviewed 14 patients with FSHD2 and 4 unaffected family members with N-terminal SMCHD1 pathogenic missense variants to identify BAMS subphenotypes.ResultsNone of the patients with FSHD2 or family members demonstrated any congenital defects or dysmorphic features commonly found in patients with BAMS. One patient became anosmic after nasal surgery and one patient was hyposmic; one man was infertile (unknown cause) but reported normal pubertal development.ConclusionThese data suggest that arhinia/BAMS and FSHD2 do not represent one phenotypic spectrum and that SMCHD1 pathogenic variants by themselves are insufficient to cause either of the 2 disorders. More likely, both arhinia/BAMS and FSHD2 are caused by complex oligogenic or multifactorial mechanisms that only partially overlap at the level of SMCHD1.

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Gopakumar, Manju, and Amitha Hedge. "Atypical Hallerman-Streif Syndrome: A Case Report." Journal of Clinical Pediatric Dentistry 30, no. 1 (September 1, 2006): 73–76. http://dx.doi.org/10.17796/jcpd.30.1.91036513g7u55705.

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Hallerman Streif syndrome is a rare congenital disorder characterized by dyscephaly, dental anomalies, proportionate nazism ,hypotrichosis, cutaneous atrophy limited to the head ,bilateral congenital cataracts and bilateral microphthalmia .Despite the marked craniofacial characteristics and oral findings, a relative lack of reports in the dental literature has been noted. In this article, a case of a 8 year old boy with dental problems is described.

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Kaba, Sultan, Murat Dogan, Nesrin Ceylan, Keziban Bulan, Nihat Demir, Sekibe Zehra Dogan, and Selami Kocaman. "A Child with Hallermann-Streiff Syndrome; as an Infrequent Cause of Hypotrichosis and Cataract." Medical Science and Discovery 3, no. 4 (July 27, 2019): 206–8. https://doi.org/10.36472/msd.v3i4.135.

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In present case report, four-months-old boy who referred to our pediatric endocrinology outpatient clinic from department of ophthalmology due to evaluation of endocrine and metabolic disorders for cataract was discussed. The characterized features of patient were hypotrichosis, microphthalmia, nystagmus, strabismus, congenital cataract, beaked nose, micrognathia,scaphocephaly, frontal and parietal bossing. The case has typical dysmorphic physical examination findings that appropriate diagnostic features to rare Hallermann-Streiff syndrome.

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Navas Llanos, Sheyla Teresa, and Carmen Barba Guzmán Variña. "Risk factors for Microtia and preventive approaches." Sapienza: International Journal of Interdisciplinary Studies 4, SI1 (September 30, 2023): e23046. http://dx.doi.org/10.51798/sijis.v4isi1.707.

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Microtia is a congenital anomaly that directly affects the external ear. Although the etiology of this pathology is not fully elucidated, there are several factors that are associated with its occurrence, such as genetics, perinatal and maternal conditions. During organogenesis of the outer ear it is important to mention that as anomalies occur before the sixth week of pregnancy, the chances of severe defects or total absence of the outer ear increase. At the genetic level, the etiology of microtia has been related to multiple causes, as well as the identification of genes involved in allelic expression pathways and transcription factors. Furthermore, this anomaly does not always occur alone, but associated with other pathologies such as cleft palate (12.8%), cleft lip and palate (11.5%), anophthalmia/microphthalmia (11.5%), facial asymmetry (10.6%), as well as oculoauriculovertebral spectrum syndromes, Goldenhar syndrome, craniofacial microsomia, Treacher Collins syndrome, Nager, DiGeorge or 22q deletion, Townes-Brock syndrome and branchi oto-renal syndrome. Treatments are based on the aesthetic management of the patient, but also related to the improvement of the patient's hearing ability. Epidemiologically, the prevalence ranges from 0.8 to 17.5 per 10,000 live births. One of the main risk factors for variation in case identification is altitude, genetics and maternal-perinatal factors. This literature review provides a thorough analysis of information for the better understanding, analysis and clinical management of this congenital anomaly.

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Singh, Kanwar Vikrant, Gurpreet Singh, Surabhi Gupta, and Paromita Patra. "Non-syndromic oropharyngeal hamartoma: A case report." Romanian Medical Journal 71, no. 1 (March 31, 2024): 49–54. http://dx.doi.org/10.37897/rmj.2024.1.9.

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This case report details the presentation, investigation, management, and histopathological examination of a rare occurrence – non-syndromic oropharyngeal hamartomas in a 2-year-old child. The child presented with a substantial orofacial mass on the dorsum of the tongue, causing significant functional impairments. Notably, the mass measured 8×4 cm and protruded outside the oral cavity. Additional findings included a nodular mass at the tongue tip, a lobulated mass on the right buccal mucosa (3×4 cm), cleft palate, microphthalmos of the right eye, and an accessory pinna on the right cheek. Diagnostic investigations, including ultrasound, revealed irregular soft tissue lesions with hypoechoic areas and vascular channels, indicative of hemangioma. Blood parameters were within normal limits. Due to the size and symptomatic nature of the mass, surgical intervention was planned and executed under general anesthesia with nasal intubation. The procedure involved complete dissection and excision of the masses from the tongue and buccal mucosa. The surgical site was meticulously closed in layers using 4-O vicryl. Postoperatively, the child resumed oral feeds on the third day, and the recovery period was uneventful. Histopathological examination of the excised specimen depicted a hamartomatous lesion of the tongue characterized by stratified squamous epithelial lining, admixture of blood vessels, adipose tissue, fibrocollagenous tissue, cartilaginous tissue, nerve bundles, adnexal structures, and minor salivary glands. The report concludes by highlighting the rarity of lingual hamartomas, emphasizing the exceptional size and vascularity of the presented case. It stresses the necessity of considering hamartomas in the differential diagnosis of tongue lesions in pediatric patients. The definitive management approach discussed is complete surgical excision, with the importance of confirming the diagnosis through histopathological examination of the excised specimen. This case contributes with valuable insights into the clinical presentation and management of non-syndromic oropharyngeal hamartomas in pediatric patients.

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VELROES, A., F. NARCY, and C. FALLET-BIANCO. "Syndromal hypothalamic hamartoblastoma with holoprosencecephaly sequence, microphthalmia, pulmonary malformation, radial hypoplasia and M??llerian regression." Clinical Dysmorphology 4, no. 1 (January 1995): 33???37. http://dx.doi.org/10.1097/00019605-199501000-00004.

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Yang, Ning, Siyan Jin, Linlin Ma, Jia Liu, Chenli Shan, and Jinsong Zhao. "The Pathogenesis and Treatment of Complications in Nanophthalmos." Journal of Ophthalmology 2020 (July 20, 2020): 1–8. http://dx.doi.org/10.1155/2020/6578750.

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Microphthalmos is a type of developmental disorder ophthalmopathy, which can occur isolated or combined with other ocular malformations and can occur secondary to a systemic syndrome. Nanophthalmos is one of the clinical phenotypes of microphthalmos. Due to the special and complex structure of nanophthalmic eyes, the disorder is often associated with many complications, including high hyperopia, angle-closure glaucoma, and uveal effusion syndrome. The management of these complications is challenging, and conventional therapeutic methods are often ineffective in treating them. The purpose of this paper was to review the concept of nanophthalmos and present the latest progress in the study of the pathogenesis and treatment of its complications. As it is considerably challenging for ophthalmologists to prevent or treat these nanophthalmos complications, timely diagnosis and a suitable clinical treatment plan are vital to ensure that nanophthalmos patients are treated and managed effectively.

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