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Journal articles on the topic 'Hypoplastic ribs'

Author: Grafiati

Published: 7 June 2025

Last updated: 2 August 2025

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1

Fuchs, Gabriela E., Mohnish Suri, Anthony Dux, Emily V. Craft, Pradeep C. Vasudevan, and George A. Tanteles. "Hypertelorism, radial ray defects, dextrocardia, hypoplastic ribs and renal anomaly." Clinical Dysmorphology 21, no. 3 (2012): 157–61. http://dx.doi.org/10.1097/mcd.0b013e328354e8cc.

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Sandhya, Jalagam, Nareddy Anusha, Josthsna Adimulam, and Deepthi Seggam. "An Uncomplicated Method of Diagnostic Approach to Type 2 Klippel Feil Syndrome and Review." International Journal of Pharmaceutical and Clinical Research 16, no. 12 (2024): 276–79. https://doi.org/10.5281/zenodo.14592478.

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Klippel Feil Syndrome is a very rare disease with three different types of presentations. Most of the cases commonly show the clinical triad of short neck, low posterior hair line, and limited neck movements. But less than 50% of all patients show all these three clinical features. We are reporting a very rare case of 12-year-old male patient presenting with neck and body pains for duration of two months. Whole spine CT revealed complete assimilation of anterior & posterior arches of C1 vertebra with clivus and occipital bones, defect at left posterior arch of C1, Aplastic right posterior

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3

Sabri, Shahbaaz A., Renzo A. Laynes, Clayton J. Hoffman, et al. "Implications of lumbosacral transitional anatomy on vertebral numbering: evaluation of 3147 adult full-length spine radiographs." Neurosurgical Focus 58, no. 6 (2025): E13. https://doi.org/10.3171/2025.3.focus2555.

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OBJECTIVE When evaluating anomalous vertebral anatomy, limited consensus exists on how to best label vertebrae, leading to numbering discrepancies between radiologists and surgeons. Errors in vertebral numbering can have devastating implications for patients, especially when intraoperative numbering errors occur. Analyzing whole-spine radiographs and identifying patterns of transitional anatomy relative to vertebral numbering could allow for a consistent numbering method. METHODS This single-institution cross-sectional study included patients older than 18 years of age who underwent full-lengt

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Meshram, Rajkumar M., Kanchan Ambatkar, and Renuka Gite. "Campomelic dysplasia: a case report." International Journal of Contemporary Pediatrics 11, no. 9 (2024): 1324–27. http://dx.doi.org/10.18203/2349-3291.ijcp20242352.

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Campomelic dysplasia is a rare, lethal, and autosomal dominant inherited disorder with reversal of sex in genotypic male in two third cases. An eight-month-old phenotypic female infant was admitted with respiratory distress and failure to thrive. She had facial dysmorphism, cleft in soft palate, pectus excavatum deformity, bowing of lower limbs, dimpling at right knee area and bilateral congenital talipes equinovarus deformity. Radiographs shows 11 pairs of ribs, hypoplastic scapula, bowing of bilateral tibia and hypoplastic bilateral fibula. Karyotyping was 46XYchromosome and whole exome sequ

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Lantos, John. "Seeking Justice for Priscilla." Cambridge Quarterly of Healthcare Ethics 5, no. 4 (1996): 485–92. http://dx.doi.org/10.1017/s0963180100007374.

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I am currently caring for a child named Priscilla who is ventilator-dependent and whose care confronted me with questions of justice. Priscilla was born at the County Hospital after a normal pregnancy to a 17-year-old single mother. At birth, she was noted to have some dysmorphic features: widely spaced eyes, low-set ears, and a cleft palate. Her chest X-ray showed hypoplastic ribs and scapulae. Her chromosome studies were normal. Eventually, a diagnosis of a rare dwarfing syndrome campomelic dysplasia – was made.

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Pasupathy, M., Vasant Radhakrishnan, Hirji Sorab Adenwalla, and Puthucode V. Narayanan. "A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction." Indian Journal of Plastic Surgery 49, no. 02 (2016): 253–57. http://dx.doi.org/10.4103/0970-0358.191310.

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ABSTRACTAcampomelic campomelic dysplasia (CD) is a type of CD (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism and is due to mutations in SOX9 gene family. Characteristic phenotypes of CD include bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate and micrognathia. The bending of the long bones is not an obligatory feature and is absent in about 10% of cases, referred to as acampomelic CD. A child previously diagnosed with acampomelic CD was brought to our outpat

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Mahajan, Parag Suresh, Islam Ali Hasan, Nazeer Ahamad, and Nawal M. Al Moosawi. "A Unique Case of Left Second Supernumerary and Left Third Bifid Intrathoracic Ribs with Block Vertebrae and Hypoplastic Left Lung." Case Reports in Radiology 2013 (2013): 1–4. http://dx.doi.org/10.1155/2013/620120.

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Intrathoracic rib (IR) is a very rare anomaly in which a normal, an accessory, or a bifid rib lies within the chest cavity and may originate from a vertebra or a rib. It is more commonly present on the right side, and sometimes it may be associated with vertebral anomalies. Only 50 cases have been reported to date in the literature. In most cases, the IR is an isolated finding; it is incidentally detected and is asymptomatic. The IR can be easily missed on a chest radiograph and can be mistaken initially for a pleural lesion, lung consolidation, other peripheral lung parenchymal lesions, or a

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8

Happle, Rudolf, and Sigrid Tinschert. "Segmentally Arranged Basaloid Follicular Hamartomas with Osseous, Dental and Cerebral Anomalies: A Distinct Syndrome." Acta Dermato-Venereologica 88, no. 4 (2008): 382–87. http://dx.doi.org/10.2340/00015555-0495.

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A 39-year-old man presented with multiple basaloid follicular hamartomas involving the right side of his body in a systematized pattern following Blaschko’s lines. His right leg was 22.5 cm shorter than the left, and rudimentary pre-axial polydactyly was noted on the left hand and the right foot. The teeth of the right maxilla were hypoplastic. DNA analysis of blood lymphocytes and fibroblasts from lesional skin did not reveal any mutation in the Patched gene. On account of this case and of 8 similar cases found in th e literature, the spectrum of a distinct syndrome is delineated. Ipsilateral

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9

Drebov, Rosen, Atanas Katsarov, Emiliyan Gagov, Nia Atanasova, Zlatin Penev, and Alexander Iliev. "Is Asphyxiating Thoracic Dystrophy (Jeune's Syndrome) Deadly and Should We Insist on Treating It? Reconstructive Surgery “On Demand”." Surgery Journal 03, no. 01 (2017): e17-e22. http://dx.doi.org/10.1055/s-0037-1598043.

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Our aim is to present the treatment of one of the skeletal manifestations of Jeune's syndrome (JS), the hypoplastic chest, which can result in thoracic insufficiency syndrome and present “on-demand” stage surgical technique using mandible locking plate system for the fixation of ribs. The diagnosis “Jeune's syndrome” was presented clinically in a 3-month-old girl from a family in which the first child died of JS at the age of 18 months. After close follow-up for several months and preoperative planning, we decided to make reconstructive chest operation with atypical use of a double-angled mand

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10

Agrawal, Priti, Rishi Agrawal, and Anandi Lobo. "Thanatophoric dysplasia- a rare cause of stillbirth and perinatal mortality: a case report." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 10, no. 3 (2021): 1232. http://dx.doi.org/10.18203/2320-1770.ijrcog20210772.

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Lethal skeletal dysplasia is estimated to occur in 0.95 per 10,000 deliveries. Thanatophoric dysplasia affects about 1in 25000 to 50000 births. The term thanatophoric is Greek word for “death bearing”. Children with this condition are usually stillborn or die shortly after birth from respiratory failure. We report a case of LSD (Thanatophoric dysplasia), in an unbooked patient where previous two children and couple were absolutely normal. Our patient, 31 years old, unbooked case presented with history of amenorrhea 8 months and unable to perceive fetal movements. Her husband’s age was 33 years

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11

Jimah, Bashiru Babatunde, Teresa Aba Mensah, Kofi Ulzen-Appiah, et al. "Prenatal Diagnosis of Skeletal Dysplasia and Review of the Literature." Case Reports in Obstetrics and Gynecology 2021 (April 13, 2021): 1–5. http://dx.doi.org/10.1155/2021/9940063.

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Introduction. Obstetric ultrasonography is routinely used to screen for fetal anomalies. Thanatophoric dysplasia (TD) is one of the common though rare lethal skeletal dysplasia, detected during routine ultrasound scan. TD is caused by a mutation in FGFR3 gene. Characteristic features include shortening of limbs, macrocephaly and platyspondyly. In our local setting, it is common to miss the diagnosis in the early scans due to lack of expertise of the sonographers. To the best of our knowledge, this is the first publication from Ghana. Case Presentation. We present the case of a 33-year-old woma

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KURTULUŞ, Burhan, Osman Yağız ATLI, and Evrim DUMAN. "The prevalence of anomalies in the lumbar spine in the Turkish male population." Anatolian Current Medical Journal 5, no. 4 (2023): 470–72. http://dx.doi.org/10.38053/acmj.1353209.

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Aims: It was aimed to determine the prevalence of lumbosacral anomalies in young male population. Methods: 56.798 male patients, between 18-49 years old, were included in this study during their medical screening in Dışkapı Yıldırım Beyazıt Training and Research Hospital from July 2016-July 2020. The presence of spina bifida occulta (SBO) and transitional vertebrae (TV) anomalies were recorded in the candidates. SBO patients were evaluated according to their S1 and L5 origins, and TV patients were evaluated separately according to sacralization and lumbarization. We identified transition

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13

Goli, Hamideh, Alia Jalalodini, and Mojgan Ansari. "Report of Ellis–Van Creveld Syndrome: A Chondroectodermal Dysplasia." Journal of Advances in Medical and Biomedical Research 31, no. 145 (2023): 207–9. https://doi.org/10.30699/jambs.31.145.207.

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<strong>Abstract</strong> Ellis-Van Creveld (EVC) syndrome, otherwise known as chondroectodermal dysplasia, is a genetic disorder with cardiac and skeletal manifestations. The four main characteristics of EVC syndrome include chondroectodermal dysplasia, polydactyly, congenital heart defects, and hypoplastic nails and teeth. Changes in the mechanical properties of the chest wall in infants with skeletal dysplasia reduce the functional residual capacity and cause respiratory failure. Here, we describe the case of a female patient with symptoms, including fever, poor feeding, and frequent cough,

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Lecanda, Fernando, Pamela M. Warlow, Sharmin Sheikh, Federico Furlan, Thomas H. Steinberg, and Roberto Civitelli. "Connexin43 Deficiency Causes Delayed Ossification, Craniofacial Abnormalities, and Osteoblast Dysfunction." Journal of Cell Biology 151, no. 4 (2000): 931–44. http://dx.doi.org/10.1083/jcb.151.4.931.

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Connexin(Cx)43 is the major gap junction protein present in osteoblasts. We have shown that overexpression of Cx45 in osteoblasts expressing endogenous Cx43 leads to decreased cell–cell communication (Koval, M., S.T. Geist, E.M. Westphale, A.E. Kemendy, R. Civitelli, E.C. Beyer, and T.H. Steinberg. 1995. J. Cell Biol. 130:987–995) and transcriptional downregulation of several osteoblastic differentiation markers (Lecanda, F., D.A. Towler, K. Ziambaras, S.-L. Cheng, M. Koval, T.H. Steinberg, and R. Civitelli. 1998. Mol. Biol. Cell 9:2249–2258). Here, using the Cx43-null mouse model, we determin

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15

Gurr, Angela, Jaliya Kumaratilake, Alan Henry Brook, Stella Ioannou, F. Donald Pate, and Maciej Henneberg. "Health effects of European colonization: An investigation of skeletal remains from 19th to early 20th century migrant settlers in South Australia." PLOS ONE 17, no. 4 (2022): e0265878. http://dx.doi.org/10.1371/journal.pone.0265878.

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The British colony of South Australia, established in 1836, offered a fresh start to migrants hoping for a better life. A cohort of settlers buried in a section of St Mary’s Anglican Church Cemetery (1847–1927) allocated for government funded burials was investigated to determine their health, with a focus on skeletal manifestations associated with metabolic deficiencies. Findings of St Mary’s sample were compared with those published for contemporary skeletal samples from two British cemeteries, St Martin’s, Birmingham, and St Peter’s, Wolverhampton, to explore similarities and differences. T

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Horvath, Lena, Andreas Seeber, Christian Uprimny, Dominik Wolf, David Nachbaur, and Florian Kocher. "Disseminated focal 18F-fluoro-deoxyglucose uptake upon granulocyte colony-stimulating factor therapy mimicking malignant bone infiltration: case report of a patient with very severe aplastic anemia." Therapeutic Advances in Hematology 11 (January 2020): 204062072097761. http://dx.doi.org/10.1177/2040620720977613.

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Combined 18F-fluoro-deoxyglucose ([18F]FDG) positron emission tomography and computed tomography ([18F]FDG-PET/CT) is increasingly used for the diagnostic and therapeutic management of hematologic and non-hematologic malignancies. Here, we describe a unique case of a patient presenting with very severe aplastic anemia and a mediastinal mass showing disseminated hypermetabolic lesions of the bones after receiving granulocyte colony-stimulating factor (G-CSF), highly suspicious for disseminated metastatic lesions. A 71-year-old patient presented with a 3 week history of dyspnea and fatigue. Bloo

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Pereira, Keylla Helena Nobre Pacifico, Caio Henrique Paganini Burini, Elton Luís Ritir Oliveira, et al. "Hypoplasia of ribs associated with cleft palate, cleft lip, and unilateral renal agenesis in a neonate dog of undefined breed." Semina: Ciências Agrárias 40, no. 1 (2019): 497. http://dx.doi.org/10.5433/1679-0359.2019v40n1p497.

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Congenital defects can cause changes in the normal function or morphology of organs, thus contributing to neonatal mortality. Malformations in dogs occur as a result of genetic factors or by the action of teratogenic agents during pregnancy. Genetic defects can be inherited from one or both parents. These defects are more common in purebred puppies or can even be the result of consanguinity. Teratogenic agents, such as toxins, drugs, infectious diseases, mechanical influences, and irradiation, may affect the litters during gestational development. Hypoplasia of ribs has been described in human

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18

Keeling, Jean W., and Inger Kjaer. "Cervical Ribs: Useful Marker of Monosomy X in Fetal Hydrops." Pediatric and Developmental Pathology 2, no. 2 (1999): 119–23. http://dx.doi.org/10.1007/s100249900099.

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Cervical ribs were observed in six hydropic fetuses with 45X karyotype. To test the usefulness of this observation in the macerated hydropic fetus where chromosome culture is problematic, a group of 36 hydropic fetuses was examined. Cases were chosen to include fetuses with several karyotypic and pathological abnormalities known to be associated with fetal hydrops. Whole-body anteroposterior radiographs were evaluated without knowledge of the fetal karyotype or pathological findings. Twenty-five fetuses had an abnormal karyotype, seven had a normal karyotype and in four culture failed. In the

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Ito, Ai, Hideshi Fujinaga, Sachiko Matsui, et al. "A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia." American Journal of Perinatology Reports 07, no. 04 (2017): e234-e237. http://dx.doi.org/10.1055/s-0037-1615791.

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Background Congenital diaphragmatic hernia (CDH) is fatal in severe cases of pulmonary hypoplasia. We experienced a fatal case of pulmonary hypoplasia due to CDH, thoracic myelomeningocele (MMC), and thoracic dysplasia. This constellation of anomalies has not been previously reported. Case Report A male infant with a prenatal diagnosis of thoracic MMC with severe hydrocephalus and scoliosis was born at 36 weeks of gestation. CDH was found after birth and the patient died of respiratory failure due to pulmonary hypoplasia and persistent pulmonary hypertension of the newborn at 30 hours of age d

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Conlon, Alison, Evangelia Fragkouli, Ailbhe Tarrant, and Michael A. Boyle. "Cerebrocostomandibular syndrome: a diagnostic challenge." BMJ Case Reports 17, no. 5 (2024): e258108. http://dx.doi.org/10.1136/bcr-2023-258108.

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A male infant born in a tertiary maternity facility was noted to have microretrognathia, a small mouth and macroglossia at delivery. He was born limp and apnoeic and required multiple attempts at intubation before a definitive airway was eventually sited. Chest X-rays, while in the paediatric intensive care unit, demonstrated dysplastic ribs with associated ‘high-riding’ clavicles. A later X-ray was reported as showing interrupted posterior ribs. A tracheostomy was formed on day of life 9 given the immediate risk to the baby’s airway. Further imaging of the facial bones, skull and brain showed

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Singh, Anshul, Anil Kumar Sakalecha, Rajeswari Rajeswari, and Yashas Ullas L. "Case Report Of Short Rib Polydactyly Syndrome." JOURNAL OF CLINICAL AND BIOMEDICAL SCIENCES 09, no. 4 (2019): 122–24. http://dx.doi.org/10.58739/jcbs/v09i4.1.

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Short rib polydactyly syndrome (SRPS) is a group of skeletal dysplasias manifested by short-limb dwarfism, short ribs with thoracic dysplasia and polydactyly. SRPS is an inherited autosomal-recessive disorder with dif-ferent prenatal sonographic and postnatal clinical, histological and radiologic findings. In this report, we pre-sent a case of SRPS type 3 (Verma-Naumoff) with thoracic hypoplasia, short limbs and postaxial polydactyly in a 30-week fetus. Keywords: Short rib polydactyly syndrome, Verma-Naumoff, Ultrasonography, Narrow thoracic cage

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Wataya, Takafumi, Kyohei Horikawa, Masashi Kitagawa, and Yuzuru Tashiro. "Thoracic meningocele in lumbo-costo-vertebral syndrome in a child: possible enlargement with repeated motion by anchoring to the diaphragm." Journal of Neurosurgery: Pediatrics 18, no. 2 (2016): 183–86. http://dx.doi.org/10.3171/2016.2.peds15598.

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Lumbo-costo-vertebral syndrome (LCVS) is a rare disorder in children that is characterized by hemivertebrae, congenital absence of ribs, meningocele, and hypoplasia of the truncal and abdominal wall presenting as a congenital lumbar hernia. An otherwise healthy 12-month-old girl was referred to the authors' hospital with soft swelling on her left middle back; scoliosis had been present since birth. Imaging revealed a thoracic meningocele, ectopia of the spleen suggesting lumbar hernia, multiple anomalies of the thoracic vertebral columns, and defects of the ribs; thus, LCVS was diagnosed. Surg

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Mohamed, Syed, and Radha Kumar. "A rare case of Sprengel deformity associated with spondylocostal dysostosis in a four-year child." International Journal of Contemporary Pediatrics 6, no. 2 (2019): 886. http://dx.doi.org/10.18203/2349-3291.ijcp20190749.

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Sprengel deformity is a complex congenital anomaly affecting one or both scapulae with mispositioning and dysplasia of scapula. It occurs due to failure of descent of scapula during intrauterine development and is the commonest congenital skeletal deformity of the scapula, often associated with other skeletal deformities. spondylocostal dysostosis is a rare genetic disorder which is characterized by malformation of the bones of the spine and ribs. It occurs in approximately 1 in 2,00,000 people worldwide. In spondylocostal dysostosis, affected children have wedge shaped vertebrae along with ri

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Deka, Debajani, and Bipul Kumar Das. "Poland syndrome: a case report." International Journal of Scientific Reports 10, no. 7 (2024): 249–51. http://dx.doi.org/10.18203/issn.2454-2156.intjscirep20241665.

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Poland syndrome is characterized by the absence or hypoplasia of other chest muscles: small pectoral muscle, anterior tightened muscle, grandorsal muscle, and deltoid muscle. Anomalies of the thoracic cage: agenesis or hypoplasia of one or more costal segments, pectus carinatum, excavatum, clavicular hypoplasia, pulmonary herniation. Abnormalities of the mammary region: agenesis or hypoplasia of the breast, areola and nipple. The reported incidence of Poland’s syndrome ranges from 1 in 7,000 to 1 in 100,000. Males are affected more frequently by a 2:1 to 3:1 ratio Poland’s syndrome has also be

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Patti, Ganesh, Raju Y. S., and Swaroopa Reddy D. "A case of human parvo virus B 19 infection with erythroid hypoplasia and Idiopathic thrombocytopenic purpura in an immunocompetent child: a case report." International Journal of Research in Medical Sciences 5, no. 1 (2016): 346. http://dx.doi.org/10.18203/2320-6012.ijrms20164576.

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Human parvo virus B19 (B19V) is a small (5.5kb) single stranded DNA (deoxy ribo nucleic acid) virus with known tropism and cytotoxicity for erythroid progenitors. Human parvovirus B19 infection is associated with various hematological disorders like aplastic crisis, erythroid hypoplasia and idiopathic thrombocytopenic purpura. Here we are presenting a rare case of parvo virus B19 infection with erythroid hypoplasia and idiopathic thrombocytopenic purpura occurring simultaneously in a 13year old girl who presented with fever and bleeding manifestations. A 13 year old girl presented with fever o

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Shahrul Baharin, Nadira, Eman Awadh Hashim, Quek Bin Huey, and Suresh Chandran. "Reinforcing the vascular disruption theory of the genesis of Poland’s syndrome: a rare association of diaphragmatic eventration in a preterm infant with severe musculoskeletal defects." BMJ Case Reports 14, no. 1 (2021): e238392. http://dx.doi.org/10.1136/bcr-2020-238392.

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A preterm female infant was admitted at birth with respiratory distress. On examination, she had an asymmetric right chest wall and ipsilateral small hand. Air entry was reduced over the right chest. A clinical diagnosis of Poland’s syndrome was made based on the hypoplasia of the right pectoral muscles, absent nipple, deformed ribs and symbrachydactyly of the ipsilateral hand. Chest X-ray suggested and ultrasound confirmed eventration of the right hemidiaphragm. ‘Subclavian artery supply disruption sequence’ (SASDS) theory by Bavnick and Weaver remains the most accepted pathogenic mechanism i

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Rahman, Ratu Rumana Binte, and Shamasunnahar Begum. "Osteogenesis imperfecta: a case report." Bangladesh Medical Journal 43, no. 1 (2014): 30–32. http://dx.doi.org/10.3329/bmj.v43i1.21376.

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Osteogenesis Imperfecta is a inherited disease of connective tissue. Its hallmark feature is bone fragility with a tendency to fracture from minimal trauma or from the work of bearing weight against gravity. The disorder may occur in one out of 20,000 to one out of 60,000 live births, affecting both male and female of all races. We present a 38 year lady who gave birth to baby with osteogenesis imperfecta in Sir Salimullah Medical College & Mitford Hospital, Dhaka. Both lower limbs appeared shortened with thick musculo-cutaneous folds. Both the femoral shafts were shortened, deformed and f

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Kovacheva, Katya, Zornica Kamburova, Victoria Atanasova, and Andrey Hristov. "Pfeiffer syndrome type 2 – two cases from the Pleven Registry of Congenital Anomalies." Paediatria Croatica 62, no. 2 (2018): 96–100. http://dx.doi.org/10.13112/pc.500.

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Pfeiff er syndrome is a rare autosomal dominant congenital disorder with the main features of acrocephalic skull, midfacial hypoplasia,syndactyly of hands and feet, broad thumbs and big toes. Three clinical subtypes (with diff erent diagnostic and prognostic implications)have been identifi ed. We report on two cases of Pfeiff er syndrome type 2 (one of them diagnosed prenatally and theother detected in the newborn), identifi ed through screening for congenital defects as an activity of the Pleven Registry of CongenitalAnomalies (member of EUROCAT). Case 1 was a male foetus from terminated preg

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Dogan, P., IG Varal, O. Gorukmez, MO Akkurt, and A. Akdag. "Achondrogenesis type 2 in a newborn with a novel mutation on the COL2A1 gene." Balkan Journal of Medical Genetics 22, no. 1 (2019): 89–94. http://dx.doi.org/10.2478/bjmg-2019-0001.

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AbstractAchondrogenesis is a group of rare and fatal disorders occurring in approximately one in every 40,000-60,000 newborns. Achondrogenesis is classified in three groups, as Achondrogenesis type 1A (Houston-Harris type or AC-G1A), Achondrogenesis type 1B (Parenti-Fraccaro type or ACG1B) and Achondrogenesis type 2 (Langer-Saldino type or ACG2), depending on clinical and radiological findings. Achondrogenesis Type 2 is a lethal skeletal dysplasia that is typically characterized by short arms and legs, a small chest with short ribs, lung hypoplasia, a prominent forehead, a small chin, and an e

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Takagi, T., H. Moribe, H. Kondoh, and Y. Higashi. "DeltaEF1, a zinc finger and homeodomain transcription factor, is required for skeleton patterning in multiple lineages." Development 125, no. 1 (1998): 21–31. http://dx.doi.org/10.1242/dev.125.1.21.

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DeltaEF1 is a DNA binding protein containing a homeodomain and two zinc finger clusters, and is regarded as a vertebrate homologue of zfh-1 (zinc finger homeodomain-containing factor-1) in Drosophila. In the developing embryo, deltaEF1 is expressed in the notochord, somites, limb, neural crest derivatives and a few restricted sites of the brain and spinal cord. To elucidate the regulatory function of deltaEF1 in mouse embryogenesis, we generated deltaEF1 null mutant (deltaEF1null(lacZ)) mice. The deltaEF1null(lacZ) homozygotes developed to term, but never survived postnatally. In addition to s

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Goshu, Eleni, Hui Jin, Rachel Fasnacht, Mike Sepenski, Jacques L. Michaud, and Chen-Ming Fan. "Sim2 Mutants Have Developmental Defects Not Overlapping with Those of Sim1 Mutants." Molecular and Cellular Biology 22, no. 12 (2002): 4147–57. http://dx.doi.org/10.1128/mcb.22.12.4147-4157.2002.

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ABSTRACT The mouse genome contains two Sim genes, Sim1 and Sim2. They are presumed to be important for central nervous system (CNS) development because they are homologous to the Drosophila single-minded (sim) gene, mutations in which cause a complete loss of CNS midline cells. In the mammalian CNS, Sim2 and Sim1 are coexpressed in the paraventricular nucleus (PVN). While Sim1 is essential for the development of the PVN (J. L. Michaud, T. Rosenquist, N. R. May, and C.-M. Fan, Genes Dev. 12:3264-3275, 1998), we report here that Sim2 mutant has a normal PVN. Analyses of the Sim1 and Sim2 compoun

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Katoh-Fukui, Yuko, Akiko Owaki, Yoshiro Toyama, et al. "Mouse Polycomb M33 is required for splenic vascular and adrenal gland formation through regulating Ad4BP/SF1 expression." Blood 106, no. 5 (2005): 1612–20. http://dx.doi.org/10.1182/blood-2004-08-3367.

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Abstract Mice with disrupted mammalian PcG (Polycomb group) genes commonly show skeletal transformation of anterior-posterior identities. Disruption of the murine M33 gene, a PcG member, displayed posterior transformation of the vertebral columns and sternal ribs. In addition, failure of T-cell expansion and hypoplasia and sex-reversal of the gonads, have been observed. In the present study, we identified defects in the splenic and adrenal formation of M33–knock-out (KO) mice on a C57BL/6 genetic background. The spleen in these animals was smaller than in the wild-type mice and was spotted red

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Selleri, Licia, Michael J. Depew, Yakop Jacobs, et al. "Requirement for Pbx1 in skeletal patterning and programming chondrocyte proliferation and differentiation." Development 128, no. 18 (2001): 3543–57. http://dx.doi.org/10.1242/dev.128.18.3543.

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Pbx1 and a subset of homeodomain proteins collaboratively bind DNA as higher-order molecular complexes with unknown consequences for mammalian development. Pbx1 contributions were investigated through characterization of Pbx1-deficient mice. Pbx1 mutants died at embryonic day 15/16 with severe hypoplasia or aplasia of multiple organs and widespread patterning defects of the axial and appendicular skeleton. An obligatory role for Pbx1 in limb axis patterning was apparent from malformations of proximal skeletal elements, but distal structures were unaffected. In addition to multiple rib and vert

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Kos, Radmila, Biljana Medjo, Slobodanka Grkovic, Dimitrije Nikolic, Silvija Sajic, and Jelena Ilic. "Camptomelic dysplasia: A case report." Srpski arhiv za celokupno lekarstvo 135, no. 5-6 (2007): 335–38. http://dx.doi.org/10.2298/sarh0706335k.

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Campomelic/camptomelic dysplasia is a very rare, severe osteochondrodysplasia characterised by severe skeletal and nonskeletal malformations and lethal outcome mainly in neonatal period. Characteristic abnormality by which the syndrome got its name is short, bowed long bones of lower extremities, most often of femur, manifested by short and bowed legs. Skin dimpling on tibial anterior side is another prominent characteristic of this syndrome. Severe cases are inherited by autosomal dominant trait, by mutation Sox9 gene on chromosome 17, with lethal outcome in the first days of life. Less sever

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Viertel, B., and G. Trieb. "The Himalayan rabbit (Oryctolagus cuniculus L.): spontaneous incidences of endpoints from prenatal developmental toxicity studies." Laboratory Animals 37, no. 1 (2003): 19–36. http://dx.doi.org/10.1258/002367703762226665.

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The historical database represents the spontaneous, i.e. normal changes of characters, in laboratory animals, and is a must for the assessment of toxic effects of compounds. For the Himalayan rabbit (CHBB:HM, SPF) background data were collected from the control groups of regulatory studies between 1968-1999 in the Biberach laboratory of Boehringer Ingelheim (Germany). In the present study these data were compared with the background data from the years 1974-1984, with those from the Ingelheim laboratory, Germany (1977-1984) and those from the breeding colony at Kawanishi, Japan (1971-1991, 197

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Lopes, Luciana Sena, and Carmen Flor. "Abordagem fisioterapêutica na síndrome de Alfred Poland: um relato de caso." Revista Pesquisa em Fisioterapia 15 (April 7, 2025): e5969. https://doi.org/10.17267/2238-2704rpf.2025.e5969.

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INTRODUCTION: Alfred Poland Syndrome (APS) is a rare congenital anomaly characterized by the total absence of the pectoralis major, pectoralis minor, serratus muscles, and the breast, as well as the areolar-nipple complex, with less than 1% risk of familial recurrence. It can also present with defects in cartilage and ribs, hypoplasia of subcutaneous tissues in the chest wall, and alopecia in the axillary and nipple regions. Poland was the first to describe an anomaly involving the absence of the pectoral muscle associated with hand deformities, which was later further described by Froriep. OB

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Giri, Neelam, Christine Mueller, Sarah Weinstein, et al. "The First Single Center Phenotypic Comparison of Fanconi Anemia, Dyskeratosis Congenita, Diamond-Blackfan Anemia, and Shwachman- Diamond Syndrome: The NCI IBMFS Cohort." Blood 112, no. 11 (2008): 2043. http://dx.doi.org/10.1182/blood.v112.11.2043.2043.

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Abstract Inherited bone marrow failure syndromes (IBMFS) comprise a group of heterogeneous genetic disorders characterized by single or multilineage cytopenias, distinctive clinical features, and an increased risk of specific malignancies, with considerable overlap in hematologic and physical manifestations. Our objective was to identify specific distinguishing features for each of the major IBMFS by identical systematic evaluations, in the first comparison of all 4 disorders in a single center. Participants were: 23 with Fanconi anemia (FA), 32 with dyskeratosis congenita (DC), 23 with Diamon

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Li, Qianqian, Xiaofan Zhu, Chenguang Yu, et al. "Case Report: A Novel Homozygous Mutation in MYF5 Due to Paternal Uniparental Isodisomy of Chromosome 12 in a Case of External Ophthalmoplegia With Rib and Vertebral Anomalies." Frontiers in Genetics 12 (February 3, 2022). http://dx.doi.org/10.3389/fgene.2021.780363.

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External ophthalmoplegia with rib and vertebral anomalies (EORVA) is characterized by congenital nonprogressive external ophthalmoplegia, ptosis, scoliosis, torticollis, vertebral, and rib anomalies, caused by homozygous mutations in the myogenic factor 5 gene (MYF5) located on chromosome 12q21.31. Uniparental disomy (UPD) is a rare inheritance of a pair of chromosomes originating from only one parent. This study describes a case of an 8-year-old boy with ptosis, scoliosis, and dysmorphic hypoplastic ribs with fusion anomalies. Trio-based exome sequencing (trio-ES) identified a novel homozygou

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Ahmed A, Montasir, Swapna R. Mondal, Mustaque Ahmed A., Bipin K. Shah, Prakash Oli, and P. Kuwar Chhetri. "Pycnodysostosis- A Rare Diagnosis Not to Miss." International Journal of Medical Students, March 3, 2023, S220. http://dx.doi.org/10.5195/ijms.2022.1803.

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Introduction: Pycnodysostosis derived from the Greek words pycnos-density, dys-defect, ostosis-bone is a rare inherited disorder of the bone with an incidence of 1.7 per million births. It is one of the lysosomal storage disorders with a deficiency of enzyme cathepsin K. Along with a history of repeated fractures of the bones, patients with Pycnodysostosis have a short stature, dolichocephalic skull, obtuse mandibular angle, short terminal phalanx. They also have dental abnormalities such as the delayed eruption of permanent teeth, and double rows of teeth. Mild psychomotor problems were noted

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Cheng, Chen, Xiuxiu Li, Sheng Zhao, Qian Feng, Xiang Ren, and Xinlin Chen. "Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis." BMC Medical Genomics 15, no. 1 (2022). http://dx.doi.org/10.1186/s12920-022-01205-z.

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Abstract Background Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3, OMIM: 613091) is an autosomal recessive disorder. SRTD3 presents clinically with a narrow thorax, short ribs, shortened tubular bones, and acetabular roof abnormalities. Clinical signs of SRTD3 vary among individuals. Pathogenic variants of DYNC2H1 (OMIM: 603297) have been reported to cause SRTD3. Methods We performed a detailed clinical prenatal sonographic characterization of a foetus with SRTD3. Trio whole-exome sequencing was used to identify causative variants in the family. The identified variants in t

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Boulemani, N., and EPH El Harrouch. "86 Multiple dysostosis in Hurler’s disease: a report of three cases." Rheumatology 61, Supplement_2 (2022). http://dx.doi.org/10.1093/rheumatology/keac496.082.

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Abstract Introduction Hurler syndrome is the most severe form of mucopolysaccharidosis type I (MPS I), It is a hereditary, metabolic disorder due to an enzymatic deficiency in alpha-Liduronidase with tissue accumulation of glycosaminoglycans (GAGs) leading gradually to chronic multiple visceral dysfunction. We report three cases of multiple dysostosis in Hurler's disease. Case 1: Mr S.O, 26 years old man, presenting a dysmorphic syndrome associating short stature, facial dysmorphism, dental staining, gingival retractions, recurrent bronchial infections, mitral valve disease and joint deformiti

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Thakrar, Krunal, Kishan Harakhani, Hardik Kharbanda, Palak Thakkar, Vishnu Senthil, and Manish Khanna. "DIAGNOSIS AND OUTCOME OF ANTENATAL OSTEOGENESIS IMPERFECTA – A GLOBAL META-ANALYSIS." INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH, March 1, 2025, 17–21. https://doi.org/10.36106/ijsr/7106001.

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Objectives: Osteogenesis imperfecta (OI) encompasses a variety of heterogeneous conditions of connective tissue. Current study aims to determine accuracy of Ultrasonography (USG) for prenatal diagnosis and its impact on postnatal outcome of pregnancy. Publicly Method: available English databases, PubMed, Cochrane library and Google Scholar, were queried and mined a total of 164 research documents, of which 11 articles were selected based on predetermined criteria. The review analyzed protocol of scan, average gestational age, accuracy of diagnosis, diagnostic criteria, other investigation empl

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Lena, Federica, Liliana Piro, Valentina Forlini, et al. "Lateral Thoracic Expansion for Jeune's Syndrome, Surgical Approach, and Technical Details." European Journal of Pediatric Surgery, December 11, 2022. http://dx.doi.org/10.1055/s-0042-1758830.

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Abstract Introduction Jeune's syndrome, or asphyxiating thoracic dystrophy (ATD), is a rare autosomal recessive disorder characterized by skeletal dysplasia. Ribs are typically short and horizontal resulting—in lethal variant—in severe lung hypoplasia, progressive respiratory failure, and death. Lateral thoracic expansion (LTE) consists in staggered bilateral ribs osteotomy leading to chest expansion and lung development. Studies on LTE in ATD patients report encouraging data, but the rarity of ATD implies the lack of a standardized surgical path. The aim of this report is to present our exper

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Watts, Laura M., Esther Kinning, Donald R. Latner, et al. "Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency." Clinical Genetics, April 22, 2025. https://doi.org/10.1111/cge.14758.

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ABSTRACTThe thoracic dystrophies are inherited skeletal conditions where abnormal embryonic development of the thoracic skeleton results in a narrow chest, pulmonary hypoplasia, and respiratory insufficiency, which can be severe or lethal. The majority of thoracic dystrophies are due to biallelic alterations in genes needed for normal ciliary function. However, despite the identification of over 20 genes as causal for the thoracic dystrophy phenotype, around 20% of patients remain without a molecular diagnosis. We present two unrelated families with a clinical diagnosis of thoracic dystrophy w

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Thakur, Ashoka Nand. "LEFT HEMI THORAX INVOLVEMENT IN POLAND SYNDROME – A RARE CASE REPORT WITH REVIEW." INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH, September 1, 2024, 19–20. http://dx.doi.org/10.36106/ijsr/3906394.

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Background-- Poland syndrome is a rare anomaly. It was rst described by Poland a medical student on anatomic dissection in 1841. [1] The incidence is 1 in 30000-35000 live births. [2]. It is characterized by absence of sternocostal por Clinical description-- tion of pectoral muscles on one side with other associated anomalies like hand deformities, aplasia or hypoplasia of second to fth ribs, underdeveloped breast tissue etc. Sternocostal portion of Pectoralis major muscle is always absent on one side in this syndrome. Syndactyly and variable degree of brachydactyly and absence of latissimus

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Mostafa, Ayman A., and Clifford R. Berry. "Manubrium tracheal index versus thoracic inlet tracheal index and proximal rib3 tracheal score to radiographically assess bulldogs’ tracheal diameter at 3 levels." American Journal of Veterinary Research, May 2, 2025, 1–8. https://doi.org/10.2460/ajvr.24.12.0400.

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Abstract Objective To evaluate the manubrium tracheal index (M-TI) at 3 levels and the correlation between M-TI and other conventional techniques. Methods Medical records and thoracic radiographs of healthy bulldogs were investigated. Tracheal luminal diameter (TLD) was measured at the caudal cervical, thoracic inlet, and intrathoracic tracheal regions on right lateral thoracic view. The absolute and average TLDs were standardized by the manubrium length (ML), thoracic inlet distance (Ti-D), and proximal third rib width to calculate M-TI, thoracic inlet tracheal index (Ti-TI), and proximal rib

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Woolley, S. A., S. E. Hayes, M. R. Shariflou, et al. "Molecular basis of a new ovine model for human 3M syndrome-2." BMC Genetics 21, no. 1 (2020). http://dx.doi.org/10.1186/s12863-020-00913-8.

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Abstract Background Brachygnathia, cardiomegaly and renal hypoplasia syndrome (BCRHS, OMIA 001595–9940) is a previously reported recessively inherited disorder in Australian Poll Merino/Merino sheep. Affected lambs are stillborn with various congenital defects as reflected in the name of the disease, as well as short stature, a short and broad cranium, a small thoracic cavity, thin ribs and brachysternum. The BCRHS phenotype shows similarity to certain human short stature syndromes, in particular the human 3M syndrome-2. Here we report the identification of a likely disease-causing variant and

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Buchh, Muqsit, Patrick J. Gillespie, Kayla Treat, et al. "Characterization of a novel deep intronic variant In DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III." Molecular Case Studies, November 28, 2022, mcs.a006254. http://dx.doi.org/10.1101/mcs.a006254.

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Bi-allelic pathogenic variants in the DYNC2H1 are the cause of short-rib thoracic dysplasia type III with or without polydactyly (OMIM#613091), a skeletal ciliopathy characterized by thoracic hypoplasia due to short ribs. In this report we review the case of a patient who was admitted to the Neonatal Intensive Care Unit (NICU) of Indiana University Health (IUH) for respiratory support after experiencing respiratory distress secondary to a small, narrow chest causing restrictive lung disease. Additional phenotypic features include postaxial polydactyly, short proximal long bones, and ambiguous

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Pieridou, Chariklia, Ataf Sabir, Jonathan Lancashire, et al. "Case Report: Osteosclerotic metaphyseal dysplasia with optic nerve involvement and progressive osteonecrosis of the jaw due to a novel LRRK1 mutation." Frontiers in Endocrinology 14 (October 18, 2023). http://dx.doi.org/10.3389/fendo.2023.1258340.

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BackgroundOsteosclerotic metaphyseal dysplasia (OSMD, OMIM 615198) is an extremely rare autosomal recessive osteopetrosis disorder resulting in a distinctive pattern of osteosclerosis of the metaphyseal margins of long tubular bones. To date, only thirteen cases have been reported (eight molecularly confirmed). Five homozygous sequence variants in the leucine-rich repeat kinase 1 (LRRK1) gene have been identified to cause OSMD. We present two male siblings with OSMD with a novel LRRK1 variant.CasesThe index case, now aged 6 years, was referred aged 9 months when diffuse sclerosis of the ribs a

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Akçay, Seçkin, Fırat Akagündüz, Osman Ölmez, Burcu Öztürk Hişmi, and Hülya Gözü. "Mucopolysaccharidosis type 4 (Morquio syndrome): A case report." JCEM Case Reports 1, Supplement_1 (2023). http://dx.doi.org/10.1210/jcemcr/luac014.022.

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Abstract Introduction Mucopolysaccharidosis (MPS) IVA (Morquio syndrome) is a rare lysosomal storage disease, that is caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS) due to an autosomal recessive mutation in the GALNS gene. Herein, we present a MPS IVA case without regular follow-up, whose enzyme replacement was planned to start at age 30 for the first time, so as to attract attention to this rare disease. Clinical Case A 30-year-old female patient diagnosed with MPS IVA, that was evaluated due to corneal clouding referred to the Marmara University endocrinology

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