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Journal articles on the topic 'Holoprosencephaly(HPE)'

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Published: 2 June 2025

Last updated: 31 July 2025

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1

Callahan, Jodi, Casey Harmon, John Aleshire, Bill Hickey, and Brandy Jones. "Alobar Holoprosencephaly With Cebocephaly." Journal of Diagnostic Medical Sonography 33, no. 1 (2016): 39–42. http://dx.doi.org/10.1177/8756479316664477.

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Holoprosencephaly (HPE) is a complex brain malformation caused by incomplete fusion of cleavage of the cerebral hemispheres and deep brain structures affecting 6 to 12:10,000 live-born infants. There are three categories of HPE ranging in severity, with alobar holoprosencephaly being the most severe, followed by semilobar holoprosencephaly, and lobar holoprosencephaly being the mildest form. Facial anomalies as well as chromosome anomalies are often associated with HPE. This case study describes a transabdominal sonographic diagnosis of alobar HPE with cebocephaly originally found at 27 weeks

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Munteanu, Alexandra, Cringu A. Ionescu, and Dan Navolan. "How to understand Holoprosencephaly." Donald School Journal of Ultrasound in Obstetrics and Gynecology 11, no. 4 (2017): 282–87. http://dx.doi.org/10.5005/jp-journals-10009-1534.

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ABSTRACT Holoprosencephaly (HPE) is a group of complex structural malformations of the forebrain that results from complete or incomplete nonseparation of the prosencephalon that yields an incomplete division of the cerebral hemispheres and of the telencephalon from the diencephalon. According to the severity of the malformation, HPE is categorized into four subtypes: Alobar HPE, semilobar HPE, lobar HPE, and a middle interhemispheric fusion variant (syntelencephaly). The incidence of HPE is 1 in 10,000 to 15,000 births. The etiology of HPE is very heterogeneous, and the identified causes unti

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Halim, H. "Alobar Holoprosencephaly : A Case Report." Journal of Medical Science And clinical Research 11, no. 12 (2023): 13–17. http://dx.doi.org/10.18535/jmscr/v11i12.03.

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Holoprosencephaly (HPE) consists of a spectrum of malformations related to incomplete separation of the prosencephalon. It occurs between the 18th and the 28th day of gestation and affects both the forebrain and the face. It is estimated to occur in 1/16,000 live births and 1/250 conceptuses. Alobar HPE, the most common and most severe type of HPE, can be diagnosed in the first trimester of pregnancy using ultrasound. Among survivors, the long-term outcome is poor and depends on the type and severity of the pathology as well as associated anomalies. Keywords : Holoprosencephaly, Alobar, Malfor

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4

Bullen, PJ, and SC Robson. "Holoprosencephaly." Fetal and Maternal Medicine Review 12, no. 1 (2001): 1–21. http://dx.doi.org/10.1017/s0965539501000110.

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Holoprosencephaly (HPE) is an uncommon and clinically severe abnormality of forebrain development, resulting from failure of septation, or cleavage, of the midline forebrain structures. It encompasses a range of brain pathology classified as lobar, semilobar or alobar HPE reflecting increasing degrees of failed septation. The closely related development of the mid-face area is frequently disturbed, with coexisting facial phenotypes ranging from cyclopia to normal.

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International, Journal of Medical Science and Innovative Research (IJMSIR). "Holoprosencephaly – Case Reports of A Rare Neurological Malformation." 2458-8687 9, no. 6 (2024): 07–12. https://doi.org/10.5281/zenodo.15448661.

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<strong>Abstract</strong> Holoprosencephaly (HPE) is a complex structural anomaly of the developing forebrain caused by incomplete division of prosencephalon into two separate hemispheres and ventricles resulting in dysmorphism of brain and face and neurological impairment. HPE has incidence rate of 1:250 in utero and the live birth rate is 1:16,000. It is classified into three types based on the degree of cerebral involvement; lobar, semi-lobar and alobar. There are various etiological factors involved in causation of Holoprosencephaly including environmental, chromosomal and genetic syndrome

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Khanna, Dolly, and Karandeep S. Bhatti. "Antenatal diagnosis of alobar holoprosencephaly." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 9, no. 5 (2020): 2184. http://dx.doi.org/10.18203/2320-1770.ijrcog20201832.

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Holoprosencephaly (HPE), a congenital induction disorder, occurs due to failed segmentation of neural tube and subsequent incomplete separation of the prosencephalon. Because of the defect in the ventral induction, HPE is also associated with multiple facial abnormalities. Mortality correlates with the severity of brain malformation and facial phenotype. Frequent causes of death include respiratory infections, dehydration due to uncontrolled diabetes insipidus, intractable seizures, and brainstem malfunction. This is a case of Alobar holoprosencephaly in the fetus of a 31-year-old G2P1 female,

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7

Meryem, Benmoussa, Naggar Amine, Oukili Houssein, El Haddad Siham, Allali Nazik, and Chat Latifa. "Antenatal and Postnatal Diagnosis of Semilobar Holoprosencephaly: Two Case Reports." Global Pediatric Health 10 (January 2023): 2333794X2311560. http://dx.doi.org/10.1177/2333794x231156037.

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Holoprosencephaly (HPE) is a rare birth defect that occurs during the first few weeks of pregnancy. It results from a disturbance in the usual signaling pathways required for separation of the embryonic prosencephalon into 2 separate cerebral hemispheres. Classically four subtypes have been recognized: alobar, semilobar, lobar, and middle interhemispheric holoprosencephaly. The cause of HPE is unknown but may include genetic disorders. In most cases of holoprosencephaly, the malformations are so severe that babies die before birth. In less severe cases, babies are born with normal or near-norm

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D., Sunilkumar, Kiran M., Subathra A., and Nagarajan K. "Persistent Fetal Trigeminal Artery with Septopreoptic Holoprosencephaly: Report of an Unusual Association." Journal of Pediatric Neurology 18, no. 05 (2019): 231–35. http://dx.doi.org/10.1055/s-0039-1692139.

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AbstractSeptopreoptic holoprosencephaly (HPE) is a type of HPE characterized by failure of separation of the septal and preoptic regions. Vascular anomalies associated with septopreoptic HPE include twig-like cerebral vessels and azygos anterior cerebral artery, the latter common to all forms of HPE. Here, we describe an 8-year-old boy presenting with developmental delay and abnormal movements who was found to have septopreoptic HPE associated with persistent trigeminal artery in magnetic resonance neuroimaging. This persistence of fetal trigeminal artery in HPE provides a further understandin

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9

Nonkulovski, D., A. Sofijanova, T. Spasovska, Milanovski Gorjan, Lj Muaremoska-Kanzoska, and T. Arsov. "Semilobar Holoprosencephaly Caused by a Novel and De Novo ZIC2 Pathogenic Variant." Balkan Journal of Medical Genetics 25, no. 2 (2022): 71–76. http://dx.doi.org/10.2478/bjmg-2022-0017.

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ABSTRACT Holoprosencephaly (HPE) is the most common embryonic forebrain developmental anomaly. It involves incomplete or absent division of the prosencephalon into two distinct cerebral hemispheres during the early stages of organogenesis. HPE is etiologically heterogeneous, and its clinical presentation is very variable. We report a case of a 7 month old female infant, diagnosed with non-syndromic semilobar holoprosencephaly, caused by a novel, de novo pathogenic variant in ZIC2 - one of the most commonly mutated genes in non-syndromic HPE coding for the ZIC2 transcription factor. The patient

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10

Jalal, Mohammed, Imane El Abbassi, Ayoub Amghar, Amine Lamrissi, and Said Bouhya. "Alobar holoprosencephaly: A case report." Edorium Journal of Gynecology and Obstetrics 7, no. 2 (2023): 1–4. http://dx.doi.org/10.5348/100032g06mj2023cr.

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Introduction: Holoprosencephaly (HPE) is a rare brain malformation, which results from a cleavage defect of the prosencephalon. Three forms have been described as: alobar, semi-lobar, and lobar forms. Case Report: We report a rare case of holoprosencephaly, diagnosed at the maternity of the Ibn Rochd Hospital Center in Casablanca. Conclusion: Holoprosencephaly is secondary to a cleavage anomaly of the prosencephalon, the diagnosis is based on echotomography, computed tomography (CT) scan and nuclear magnetic resonance imaging (MRI). It is important to perform a karyotype to look for a chromoso

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Suwardewa, Tjokorda Gde Agung, Ryan Saktika Mulyana, and William Alexander Setiawan. "Alobar holoprosencephaly: a case report." Indonesian Journal of Perinatology 3, no. 1 (2022): 4–7. http://dx.doi.org/10.51559/inajperinatol.v3i1.23.

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Introduction: Holoprosencephaly (HPE) is a rare congenital malformation of the brain; the incidence rate was 0.49-1.2 cases per 10,000-20,000 term births. HPE occurs due to failure of the prosencephalon division at the stage of brain development during the 4-5 weeks of pregnancy. Alobar HPE is one of the most severe types compared to other types. Most of the fetuses affected by this anomaly will die, and those born alive generally cannot survive for more than a year. This study presented a rare case of a baby with alobar HPE. Case report: A 33-year-old woman referred from Karang asem hospital

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12

Ionescu, Cringu Antoniu, Simona Vladareanu, Stefania Tudorache, et al. "The wide spectrum of ultrasound diagnosis of holoprosencephaly." Medical Ultrasonography 21, no. 2 (2019): 163. http://dx.doi.org/10.11152/mu-1614.

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Aim: Holoprosencephaly (HPE) is the most common brain malformation. A wide spectrum of anatomical variants are characterized by a lack of midline separation of the cerebral hemispheres. The aim of this study was to assess the ultrasound diagnostic criteria for HPE.Material and method: A database of 175 fetuses with central nervous system anomalies identified by ultrasound was collected retrospectively from 2006 to 2016 in this multicenter, retrospective, observational study. Among them 18 cases (10.2%) with HPE were identified.Results: The prevalence of HPE was 2.5:10.000 with the sex distribu

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13

Malta, Maísa, Rowim AlMutiri, Christine Saint Martin, and Myriam Srour. "Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management." Children 10, no. 4 (2023): 647. http://dx.doi.org/10.3390/children10040647.

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Holoprosencephaly (HPE) is the most common malformation of the prosencephalon in humans. It is characterized by a continuum of structural brain anomalies resulting from the failure of midline cleavage of the prosencephalon. The three classic subtypes of HPE are alobar, semilobar and lobar, although a few additional categories have been added to this original classification. The severity of the clinical phenotype is broad and usually mirrors the radiologic and associated facial features. The etiology of HPE includes both environmental and genetic factors. Disruption of sonic hedgehog (SHH) sign

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14

Sikakulya, Franck Katembo, Sonye Magugu Kiyaka, Robert Masereka, and Robinson Ssebuufu. "Alobar Holoprosencephaly with Cebocephaly in a Neonate Born to an HIV-Positive Mother in Eastern Uganda." Case Reports in Otolaryngology 2021 (October 25, 2021): 1–4. http://dx.doi.org/10.1155/2021/7282283.

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Background. Holoprosencephaly (HPE) is a rare cerebrofacial abnormality resulting from the complete or partial failure of the diverticulation and cleavage of the primitive forebrain. It has an incidence at birth of 1:16000. Case Presentation. We report a case of a 2600 g newborn female delivered by an HIV-infected mother in whom an antenatal ultrasound scan at 34 weeks’ gestation reported features of fetal alobar holoprosencephaly. The neonate was born with cebocephaly, a monkey-like head, and did not survive for more than 30 minutes following delivery by caesarian section despite oxygen thera

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15

Elisa, Elisa, A. H. Putranti, and E. Mulyono. "Clinical manifestations in semilobar holoprosencephaly." Paediatrica Indonesiana 51, no. 3 (2011): 182. http://dx.doi.org/10.14238/pi51.3.2011.182-6.

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Holoprosencephaly (HPE) is a brain malformation caused by a primary defect in induction and patterning of the rostral neurotube (basal forebrain) during the first 4 weeks of embryogenesis. T his defect results in incomplete separation of the cerebral hemispheres.Based on the degree of hemispheric nonseparation, HPE traditionally has been classified into three types: alobar, semilobar, and lobar.! In 1963, DeMyer et al. mentioned that defects in brain development may frequently coexist with abnormalities on the midfacial region. T he median facio-cerebral anomalies appear in various associated

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16

Yang, Ming‐Tao, Wang‐Tso Lee, Steven Shinnforng Peng, et al. "The roles of electroencephalography and neuroimaging in children with holoprosencephaly." Epileptic Disorders 6, no. 3 (2004): 173–80. http://dx.doi.org/10.1684/j.1950-6945.2004.tb00066.x.

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ABSTRACT We analyze the respective roles of neuro‐imaging and EEG in the assessment of 11 children with holoprosencephaly and epilepsy. Seizures were present in seven patients (64%) ; six were treated with antiepileptic drugs ; five had intractable epilepsy. Two of the patients with intractable epilepsy became seizure‐free under polytherapy. Fourteen EEG recordings were performed in eight patients. The abnormal EEG findings included slow waves, focal epileptiform discharges, slow spike‐and‐wave complexes, hypsarrhythmia, frontal fast activity, fronto‐occipital gradients of amplitudes (posterio

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17

Mercier, Sandra, Christèle Dubourg, Marion Belleguic, et al. "Genetic counseling and “molecular” prenatal diagnosis of holoprosencephaly (HPE)." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 154C, no. 1 (2010): 191–96. http://dx.doi.org/10.1002/ajmg.c.30246.

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18

Fedoua, Watik, Harrad Mouna, Said Hasana, Houssine Boufettal, Sakher Mahdaoui, and Naima Samouh. "Holoprosencephaly (HPE) : case report and review of the literature." International Journal of Surgery Case Reports 110 (September 2023): 108723. http://dx.doi.org/10.1016/j.ijscr.2023.108723.

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Aguinaga, M., I. Llano, J. C. Zenteno, and S. Kofman Alfaro. "Novel Sonic Hedgehog Mutation in a Couple with Variable Expression of Holoprosencephaly." Case Reports in Genetics 2011 (2011): 1–3. http://dx.doi.org/10.1155/2011/703497.

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Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and midface in humans. sporadic and inherited mutations in the human sonic hedgehog (SHH) gene cause 37% of familial HPE. A couple was referred to our unit with a family history of two spontaneous first trimester miscarriages and a daughter with HPE who presented early neonatal death. The father had a repaired median cleft lip, absence of central incisors, facial medial hypoplasia, and cleft palate. Intelligence and a brain CT scan were normal. Direct paternal sequencing analysis showed a novel nonsense mutation (

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20

Chbichib, Chada, Imane Kazouini, Jihane Mhaili, Btissam Zouita, Dounia Basraoui, and Hicham Jalal. "Holoprosencephaly Alobar: Imaging Finding: A Case Report and Literature Review." Scholars Journal of Medical Case Reports 11, no. 10 (2023): 1851–53. http://dx.doi.org/10.36347/sjmcr.2023.v11i10.033.

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Holoprosencephaly is a rare and a complex congenital brain malformation resulting from defective cleavage of the prosencephalon that occurs at 4 - 8th week of gestation and is usually associated with multiple cranio facial anomalies. It is the most common forebrain developmental anomaly in humans and a worldwide distribution. The etiology of HPE is very heterogeneous it has an extremely reserved fetal prognosis, particularly for the alobar form. Here, we report a case of holoprosencephaly alobar of a 24-day old boy, with microcephaly, flat nose, a single nostril, midline cleft lip palate and c

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Kruszka, Paul, Seth I. Berger, Valentina Casa, et al. "Cohesin complex-associated holoprosencephaly." Brain 142, no. 9 (2019): 2631–43. http://dx.doi.org/10.1093/brain/awz210.

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Abstract Marked by incomplete division of the embryonic forebrain, holoprosencephaly is one of the most common human developmental disorders. Despite decades of phenotype-driven research, 80–90% of aneuploidy-negative holoprosencephaly individuals with a probable genetic aetiology do not have a genetic diagnosis. Here we report holoprosencephaly associated with variants in the two X-linked cohesin complex genes, STAG2 and SMC1A, with loss-of-function variants in 10 individuals and a missense variant in one. Additionally, we report four individuals with variants in the cohesin complex genes tha

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Riu, Deviana Soraya, and Efendi Lukas. "Tiga Kasus Holoprosensefal Alobar Dengan Variasi Gambaran Klinis : Diagnosis Ultrasonografi." Indonesian Journal of Obstetrics & Gynecology Science 5, no. 1 (2022): 150–57. http://dx.doi.org/10.24198/obgynia/v5n1.382.

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Holoprosensefal (HPE) adalah spektrum malformasi dengan berbagai hasil luaran. Laporan ini menjelaskan 3 kasus holoprosensefal alobar yang dikonfirmasi saat antenatal dengan pemeriksaan ultrasonografi (USG). Selain gambaran holoprosensefal alobar yang serupa pada ketiga kasus, ditemukan gambaran lain yaitu probosis, siklops, kelainan jantung, dan arteri umbilikalis tunggal. Gambaran klinis yang berbeda adalah preeklamsia, polidaktili, dan mikropenis pada kasus pertama, pada kasus kedua adalah mielomeningokel; dan hidransefal untuk kasus ketiga. Analisis kromosom dilakukan hanya pada kasus kedu

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Wenghoefer, M., M. Ettema Anke, F. Sina, et al. "Prenatal Ultrasound Diagnosis in 51 Cases of Holoprosencephaly: Craniofacial Anatomy, Associated Malformations, and Genetics." Cleft Palate-Craniofacial Journal 47, no. 1 (2010): 15–21. http://dx.doi.org/10.1597/08-036.1.

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Objective To analyze the prenatal ultrasound findings of the craniofacial and extracephalic anatomy, the postnatal pathological findings, and the genetic anomalies in 51 cases of holoprosencephaly (HPE). Materials and Methods Between 1990 and 2005, a collective of 51 fetuses with tentative ultrasound diagnosis of HPE was recruited at two tertiary referral centers for prenatal ultrasound diagnostics via the Pia Fetal Database (GE Medical Systems, Webling, Germany). Cephalic as well as extracephalic anomalies were investigated, and all cases were subdivided into the subgroups lobar, alobar, and

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Lim, Alvin ST, Tse Hui Lim, Su Keyau Kee, et al. "Holoprosencephaly: An Antenally-diagnosed Case Series and Subject Review." Annals of the Academy of Medicine, Singapore 37, no. 7 (2008): 594–97. http://dx.doi.org/10.47102/annals-acadmedsg.v37n7p594.

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Introduction: Holoprosencephaly (HPE) is an uncommon congenital failure of forebrain development. Although the aetiology is heterogeneous, chromosomal abnormalities or a monogenic defect are the major causes, accounting for about 40% to 50% of HPE cases. At least 7 genes have been positively implicated, including SHH, ZIC2, SIX3, TGIF, PTCH1, GLI2, and TDGF1. Clinical Picture: Twelve antenatally- and 1 postnatally-diagnosed cases are presented in this study. These comprised 6 amniotic fluid, 3 chorionic villus, 2 fetal blood, 1 peripheral blood, and 1 product of conception. Outcome: The total

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Machado, Isabela Nelly, Juliana Karina Heinrich, and Ricardo Barini. "Genomic imbalances detected through array CGH in fetuses with holoprosencephaly." Arquivos de Neuro-Psiquiatria 69, no. 1 (2011): 3–8. http://dx.doi.org/10.1590/s0004-282x2011000100002.

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OBJECTIVE: Holoprosencephaly (HPE) is heterogeneous in pathogenesis, integrating genetic susceptibility with the influence of environmental factors. Submicroscopic aberrations may contribute to the etiology of HPE. Our aim was to report the molecular analysis of 4 fetuses with HPE and normal metaphase karyotype. METHOD: A whole genome BAC-array based Comparative Genomic Hybridization (array CGH) was carried out in fetal blood samples. All potential cytogenetic alterations detected on the arrays were matched against the known copy number variations databases. RESULTS: The array CGH analysis sho

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Petersson, Rajanya S., William A. Carey, and Dana M. Thompson. "Airway Management in an Infant with Alobar Holoprosencephaly and Cebocephaly Associated with Maternal Diabetes Mellitus." Ear, Nose & Throat Journal 92, no. 5 (2013): 215–18. http://dx.doi.org/10.1177/014556131309200516.

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We report a case of alobar holoprosencephaly (HPE) and cebocephaly associated with uncontrolled maternal type 1 (insulin-dependent) diabetes mellitus. Alobar HPE is the most severe form of HPE. Patients with cebocephaly have ocular hypotelorism and a proboscis with a single, blind-ended nostril. Shortly after our patient was born, we were consulted for airway management, as the parents’ goal was to bringtheir child home. A tracheostomy tube was placed, and choanal atresia repair was eventually performed. The infant was never decannulated, however, and she died at the age of 9 months of acute r

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Waikar, Manjushri, and Anamika Singh. "Antenatal diagnosis of alobar holoprosencephaly: a case report." International Journal of Contemporary Pediatrics 6, no. 5 (2019): 2198. http://dx.doi.org/10.18203/2349-3291.ijcp20193736.

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Holoprosencephaly (HPE) is a structural malformation of the brain that results from the complete or incomplete noncleavage of the forebrain/ prosencephalon of the embryo into 2 hemispheres1. We present a case of twenty-five year-old primigravida presented to the Outpatient department of Obstetrics for routine checkup and diagnosed with Alobar holoprosencephaly on 2nd level USG. Fetal MRI was performed and the findings were confirmed. Even though ultrasonography is diagnostic in the detection of fetal anomalies, MRI plays a vital role due to its multiplanar capability and excellent soft tissue

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Mzoughi, Slim, Federico Di Tullio, Diana H. P. Low, et al. "PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly." Science Advances 6, no. 2 (2020): eaax9852. http://dx.doi.org/10.1126/sciadv.aax9852.

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Holoprosencephaly (HPE) is a congenital forebrain defect often associated with embryonic lethality and lifelong disabilities. Currently, therapeutic and diagnostic options are limited by lack of knowledge of potential disease-causing mutations. We have identified a new mutation in the PRDM15 gene (C844Y) associated with a syndromic form of HPE in multiple families. We demonstrate that C844Y is a loss-of-function mutation impairing PRDM15 transcriptional activity. Genetic deletion of murine Prdm15 causes anterior/posterior (A/P) patterning defects and recapitulates the brain malformations obser

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Cynthia Cynthia, Edbert Wielim, Regina Suriadi, and Putu Siska Suryaningsih. "Beyond Microcephaly: Semilobar Holoprosencephaly with Marked Macrocephaly due to Severe Congenital Hydrocephalus, Brachycephaly, and Hyponatremia – A Case Report." Open Access Indonesian Journal of Medical Reviews 5, no. 5 (2025): 1401–15. https://doi.org/10.37275/oaijmr.v5i5.768.

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Holoprosencephaly (HPE) is a rare, complex brain malformation arising from incomplete prosencephalon cleavage, typically associated with microcephaly and facial dysmorphism. Coexisting severe hydrocephalus leading to macrocephaly in HPE, particularly the semilobar type, presents a distinct clinical picture. Hyponatremia often complicates neurological conditions involving increased intracranial pressure, potentially worsening prognosis. The aim of this case report is to meticulously describe the clinical presentation, diagnostic evaluation, management approach, and early outcomes of this rare a

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DEMIR, NIHAT, MURAT DOĞAN, ERDAL PEKER, KEZIBAN BULAN, and OĞUZ TUNCER. "A very rare entity of diabetes insipidus associated with Edwards Syndrome." Genetics Research 95, no. 4 (2013): 130–32. http://dx.doi.org/10.1017/s0016672313000165.

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SummaryEdwards syndrome is the second most commonly seen trisomy. It was first described by John Hamilton Edwards in 1960. Although most cases result in termination or foetal loss, live births have been documented in 5%. Edwards syndrome is characterized by multisystem anomalies, of which holoprosencephaly (HPE) is observed in 4–8% of cases. The clinical findings correspond to the degree of HPE malformation. Convulsions and endocrinopathies are among the severe clinical findings. The most common endocrinopathies are central diabetes insipidus (DI), hypothyroidism, hypocortisolism and growth ho

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Kandoussi, Hajar, Khaoula Laaboub, Hounaida Mahfoud, and Zaki Elhanchi. "Semi-Lobar Holoprosencephaly Diagnosed at Term: The Critical Role of Prenatal Diagnosis." Scholars Journal of Medical Case Reports 13, no. 07 (2025): 1574–77. https://doi.org/10.36347/sjmcr.2025.v13i07.012.

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Objective: To report a case of semi-lobar holoprosencephaly (HPE) diagnosed at term in the context of an unmonitored diabetic pregnancy, emphasizing the importance of early prenatal screening. Case Report: A primigravida with poorly controlled type 1 diabetes and no structured prenatal care was admitted in preterm labor at 36 weeks. An emergency ultrasound revealed intrauterine growth restriction, microcephaly, and semi-lobar HPE with major facial dysmorphism (hypotelorism, single nostril). The infant was delivered vaginally. At birth, the newborn exhibited profound clinical signs of life-thre

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Tatsi, Christina, Amalia Sertedaki, Antonis Voutetakis, et al. "Pituitary Stalk Interruption Syndrome and Isolated Pituitary Hypoplasia May Be Caused by Mutations in Holoprosencephaly-Related Genes." Journal of Clinical Endocrinology & Metabolism 98, no. 4 (2013): E779—E784. http://dx.doi.org/10.1210/jc.2012-3982.

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Context: Holoprosencephaly (HPE) is a developmental defect characterized by wide phenotypic variability, ranging from minor midline malformations (eg, single central incisor) to severe deformities. In 10–15% of HPE patients, mutations in specific genes have been identified (eg, SHH, TGIF, SIX3). Pituitary stalk interruption syndrome (PSIS) constitutes a distinct abnormality of unknown pathogenesis, whereas isolated pituitary hypoplasia (IPH) has been linked to various developmental genes. Objective: Three of our patients with PSIS had a single central incisor, a malformation encountered in som

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Henderson, Lindsay B., Virginia L. Corson, Daniel O. Saul, et al. "First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7." Case Reports in Genetics 2013 (2013): 1–3. http://dx.doi.org/10.1155/2013/578202.

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Holoprosencephaly (HPE) is a developmental defect in humans in which the forebrain fails to completely separate into two hemispheres. We describe a 12 3/7-week-old fetus found on ultrasound evaluation to have features consistent with HPE, including a single anterior ventricle, fused thalami, and a flattened profile. Cytogenetic analysis of chorionic villi revealed a ring chromosome 7 [r(7)]. This uncommon finding has been associated with growth delay, microcephaly, and dermatologic abnormalities. However, both the clinical features and the extent of cytogenetic imbalance of chromosome 7 are va

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Lindsley, Craig W. "Genetic and Rare Disease of the CNS. Part II: Holoprosencephaly (HPE)." ACS Chemical Neuroscience 9, no. 4 (2018): 626–27. http://dx.doi.org/10.1021/acschemneuro.8b00135.

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Cherdantseva, S. Yu, E. B. Olkhova, Yu E. Cherdantseva, O. P. Kanailova, and N. V. Gorbacheva. "Possibilities of the ultrasound method in the diagnosis of pathology of the septal region. Literature review and clinical cases." Сибирский научный медицинский журнал 43, no. 4 (2023): 44–54. http://dx.doi.org/10.18699/ssmj20230404.

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Disorder of the formation of the cavum septum pellucidum (CSP) occurs in a wide range of pathologies of the brain. Its identification from 18 to 37 weeks is a necessary rule of prenatal screening, which must also be performed in postnatal studies of premature infants. Unimaged CSP should be considered as a potential indicator of cerebral dysfunction and such severe malformations as agenesis (dysgenesis) of the corpus callosum, holoprosencephaly (HPE), schizencephaly, Aicardi syndrome, hydrocephalus and septo-optic dysplasia (SOD). A special place in the differential diagnosis of unimaged CSP i

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Riu, Deviana Soraya, and Efendi Lukas. "Tiga Kasus Holoprosensefal Alobar dengan Variasi Gambaran Klinis:Diagnosis Ultrasonografi." Indonesian Journal of Obstetrics & Gynecology Science 5, no. 1 (2022): 150. http://dx.doi.org/10.24198/obgynia.v5i1.382.

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Holoprosensefal (HPE) adalah spektrum malformasi dengan berbagai hasil luaran. Laporan ini menjelaskan 3 kasus holoprosensefal alobar yang dikonfirmasi saat antenatal dengan pemeriksaan ultrasonografi (USG). Selain gambaran holoprosensefal alobar yang serupa pada ketiga kasus, ditemukan gambaran lain yaitu probosis, siklops, kelainan jantung, dan arteri umbilikalis tunggal. Gambaran klinis yang berbeda adalah preeklamsia, polidaktili, dan mikropenis pada kasus pertama, pada kasus kedua adalah mielomeningokel; dan hidransefal untuk kasus ketiga. Analisis kromosom dilakukan hanya pada kasus kedu

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Bulk, Johannes, Valentyn Kyrychenko, Philipp M. Rensinghoff, Zahra Ghaderi Ardekani, and Stephan Heermann. "Holoprosencephaly with a Special Form of Anophthalmia Result from Experimental Induction of bmp4, Oversaturating BMP Antagonists in Zebrafish." International Journal of Molecular Sciences 24, no. 9 (2023): 8052. http://dx.doi.org/10.3390/ijms24098052.

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Vision is likely our most prominent sense and a correct development of the eye is at its basis. Early eye development is tightly connected to the development of the forebrain. A single eye field and the prospective telencephalon are situated within the anterior neural plate (ANP). During normal development, both domains are split and consecutively, two optic vesicles and two telencephalic lobes emerge. If this process is hampered, the domains remain condensed at the midline. The resulting developmental disorder is termed holoprosencephaly (HPE). The typical ocular finding associated with inten

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Yamasaki, Yui, Yoshiya Miyahara, Kenji Tanimura, Yasuhiko Ebina, Hiroki Morita, and Hideto Yamada. "Prenatal diagnosis of holoprosencephaly with proboscis and cyclopia caused by monosomy 18p resulting from unbalanced whole-arm translocation of 18;21." Case Reports in Perinatal Medicine 5, no. 1 (2016): 55–59. http://dx.doi.org/10.1515/crpm-2015-0062.

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Abstract A case of holoprosencephaly (HPE) with proboscis, fused eyes in one orbit, and cyclopia was diagnosed by fetal ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI). Ultrasonographic examination at 28 weeks of gestation showed fusion of the frontal part of the brain and ventricular dilation. Subsequent CT and MRI examinations confirmed this anomaly as alobar HPE. Amniocentesis followed by chromosome analysis demonstrated karyotype as de novo 45,XY, der (18;21)(q10;q10), with deletion of a short arm of chromosome 18. The pregnancy ended in a premature delivery of a

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Samira, Kumar Behera, Behera Lipika, Acharya Swetambari, Mishra Dipika, Pattnaik Chaitali, and Mohanty Shushruta. "Alobar Holoprosencephaly: A Rare Case Report." International Journal of Pharmaceutical and Clinical Research 14, no. 5 (2022): 18–24. https://doi.org/10.5281/zenodo.13631135.

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Holoprosencephaly (HPE) is a rare congenital anomaly that occurs due to failure of prosencephalon to develop into two cerebral hemispheres. It results in brain malformation associated with multiple midline facial defects that occurs usually in 4th to 8th week of gestation. Most affected fetuses do not survive; severely affected children typically do not survive beyond early infancy, while a significant proportion of more mildly affected children survive past 12 months. We here in discuss a case of alobar holoprosencephaly in a fetus with midline facial defects that was detected clinically on U

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Mar, Lynn, and Pamela A. Hoodless. "Embryonic Fibroblasts from Mice Lacking Tgif Were Defective in Cell Cycling." Molecular and Cellular Biology 26, no. 11 (2006): 4302–10. http://dx.doi.org/10.1128/mcb.02156-05.

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ABSTRACT Holoprosencephaly (HPE) is the most common structural anomaly of the human brain, resulting from incomplete cleavage of the developing forebrain during embryogenesis. Haploinsufficient mutations in the TG-interacting factor (TGIF) gene were previously identified in a subset of HPE families and sporadic patients, and this gene is located within a region of chromosome 18 that is associated with nonrandom chromosomal aberrations in HPE patients. TGIF is a three-amino-acid loop extension (TALE) homeodomain-containing transcription factor that functions both as a corepressor of the transfo

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Rima, Shamim, Md Tarik Aziz, Rumana Amin, and M. Afsar Abedin. "Antenatal Sonographic Diagnosis of a Case of Alobar Holoprosencephaly." Anwer Khan Modern Medical College Journal 9, no. 1 (2018): 68–70. http://dx.doi.org/10.3329/akmmcj.v9i1.35828.

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Holoprosencephaly, a disorder resulting from failure of cleavage or incomplete differentiation of the forebrain structures at various levels or to various degrees, is related to hereditary factors, chromosomal anomalies, cytogenetic abnormalities, and environmental teratogenic factors. This anomaly is resulted from the failure of diverticulation and cleavage of primitive prosencephalon during weeks 4-8 of gestation. In this study, we described a case of HPE in a neonate with gestational age of 35 weeks.Anwer Khan Modern Medical College Journal Vol. 9, No. 1: Jan 2018, P 68-70

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Verrotti, Alberto, Chiara Palka, Giovanni Prezioso, et al. "Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures." Cytogenetic and Genome Research 146, no. 2 (2015): 115–19. http://dx.doi.org/10.1159/000438502.

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We report the first case of an 18p11.32 deletion, detected by array CGH, associated with a drug-resistant form of atypical absence epilepsy, global developmental delay and no signs of holoprosencephaly (HPE). In particular, this region encompasses 19 genes, and none of these genes have been strictly associated with epilepsy. Among these, TGIF1 is expressed in the fetal and adult nervous system, and its deletion has been related to central nervous system diseases. TGIF1 deletions have previously been reported in patients with a comparable phenotype as seen in our case and in children whose neur

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Hong, Mingi, Wei Zhang, and Robert S. Krauss. "Alcohol-induced holoprosencephaly (HPE) in Cdo−/− mice: A model for gene–environment interactions." Developmental Biology 331, no. 2 (2009): 445. http://dx.doi.org/10.1016/j.ydbio.2009.05.217.

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Rathod, Setu, Sunil Kumar Samal, and Jasmina Begum. "Holoprosencephaly with cyclopia: a rare case report." International Journal of Otorhinolaryngology and Head and Neck Surgery 1, no. 1 (2015): 37. http://dx.doi.org/10.18203/issn.2454-5929.ijohns20150586.

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<p class="abstract"><span lang="EN-US">Holoprosencephaly (HPE) with cyclopia is a rare congenital anomaly of the forebrain system where due to deformation and hypoplasia of the facial skeleton, one eye orbit is formed in the place where both eyes should be present. Many teratogenic factors are identified as the causative factors for this anomaly which include irregular cholesterol biosynthesis, viruses, alcohol intake and maternal diabetes. Many authors also suggest genetic aetiology of this illness. We report a case of 32 year old lady G<sub>2</sub>P<sub>1</su

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Bendavid, Claude, Christèle Dubourg, Isabelle Gicquel, et al. "Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes." Human Genetics 119, no. 1-2 (2005): 1–8. http://dx.doi.org/10.1007/s00439-005-0097-6.

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Nakaguma, Marilena, Nathalia Garcia Bianchi Pereira Ferreira, Anna Flavia Figueredo Benedetti, et al. "Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum." Genes 12, no. 8 (2021): 1128. http://dx.doi.org/10.3390/genes12081128.

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We report four allelic variants (three novel) in three genes previously established as causal for hypopituitarism or related disorders. A novel homozygous variant in the growth hormone gene, GH1 c.171delT (p.Phe 57Leufs*43), was found in a male patient with severe isolated growth hormone deficiency (IGHD) born to consanguineous parents. A hemizygous SOX3 allelic variant (p.Met304Ile) was found in a male patient with IGHD and hypoplastic anterior pituitary. YASARA, a tool to evaluate protein stability, suggests that p.Met304Ile destabilizes the SOX3 protein (ΔΔG = 2.49 kcal/mol). A rare, hetero

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de Castro, Viviane Freitas, Daniel Mattos, Flavia Martinez de Carvalho, et al. "New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly." Molecular Syndromology 12, no. 4 (2021): 219–33. http://dx.doi.org/10.1159/000515044.

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Holoprosencephaly (HPE) is the failure of the embryonic forebrain to develop into 2 hemispheres promoting midline cerebral and facial defects. The wide phenotypic variability and causal heterogeneity make genetic counseling difficult. Heterozygous variants with incomplete penetrance and variable expressivity in the <i>SHH</i>, <i>SIX3</i>, <i>ZIC2</i>, and <i>TGIF1</i> genes explain ∼25% of the known causes of nonchromosomal HPE. We studied these 4 genes and clinically described 27 Latin American families presenting with nonchromosomal HPE. Three

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Vishal Kumar, Savita Devi, and Kamaldeep Singh. "A Review on Holoprosencephaly Disease (CYCLOPIA): Risk Factors, Causes, Pathophysiology and Diagnosis with spotlight of various features reported in cases." International Journal of Research in Pharmaceutical Sciences 11, no. 3 (2020): 4170–81. http://dx.doi.org/10.26452/ijrps.v11i3.2624.

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Holoprosencephaly has a sever condition called Cylopia that is occur due to embryonic prosencephalon cleavage failure and contrast. Mostly cylopia form is holoprosencephaly, mid facial tissue is absent which causes the one eye on a single orbit. It is a sever deformity of median faciocerebal development. There are 1.05 cases in100,000 birth, still births of cyclopean. Abnormal nose above eyes or absence of nose, single eyes or half divided eyes in single orbit are features of cyclopia, where as reduced size of oral aperture or absence of mouth, absence of mandible with ears below chin. It is a

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Leonard, Norma J., Darrell J. Tomkins, and Nestor Demianczuk. "Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat." Prenatal Diagnosis 20, no. 12 (2000): 947–49. http://dx.doi.org/10.1002/1097-0223(200012)20:12<947::aid-pd957>3.0.co;2-x.

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Sagai, Tomoko, Takanori Amano, Akiteru Maeno, Rieko Ajima, and Toshihiko Shiroishi. "SHH signaling mediated by a prechordal and brain enhancer controls forebrain organization." Proceedings of the National Academy of Sciences 116, no. 47 (2019): 23636–42. http://dx.doi.org/10.1073/pnas.1901732116.

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Sonic hedgehog (SHH) signaling plays a pivotal role in 2 different phases during brain development. Early SHH signaling derived from the prechordal plate (PrCP) triggers secondary Shh induction in the forebrain, which overlies the PrCP, and the induced SHH signaling, in turn, directs late neuronal differentiation of the forebrain. Consequently, Shh regulation in the PrCP is crucial for initiation of forebrain development. However, no enhancer that regulates prechordal Shh expression has yet been found. Here, we identified a prechordal enhancer, named SBE7, in the vicinity of a cluster of known

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