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Jarcho-Levin syndrome

Known as: Spondylocostal dysplasia, recessive form, Spondylocostal Dysostosis 1, Autosomal Recessive, COSTOVERTEBRAL DYSPLASIA 
A rare disorder caused by mutations in the DLL3 gene, MESP2 gene, LFNG gene, or HES7 gene. It is characterized by abnormal development of bones in… 
National Institutes of Health

Related topics

Related topics

9 relations
Congenital anomaly of spineConnective and Soft TissueDLL3 geneDLL3, ARG238TER

Broader (2)

Diaphragmatic HerniaMultiple congenital anomalies

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2007
Review
2007
Disruption of the somitic molecular clock causes abnormal vertebral segmentation.
Somites are the precursors of the vertebral column. They segment from the presomitic mesoderm (PSM) that is caudally located and… 
2000
2000
Overlap of PIV syndrome, VACTERL and Pallister–Hall syndrome: clinical and molecular analysis
The polydactyly, imperforate anus, vertebral anomalies syndrome (PIV, OMIM 174100) was determined as a distinct syndrome by Say… 
Review
1993
Review
1993
Fetal Hemivertebrae: Associated Anomalies, Significance, and Outcome
Objective: To study fetuses who had the sonographic diagnosis of hemivertebrae made in utero (excluding open neural tube defects… 
1991
1991
Sirenomelia and anencephaly.
We report on a monozygotic twin with sirenomelia and anencephaly. This association seems to have been observed only twice before… 
1991
1991
Familial Jarcho‐Levin syndrome
Jarcho‐Levin syndrome is a variety of autosomal recessive spondylocostal dysostosis characterized by severe deformity of the… 
1985
1985
Spinal deformities in Larsen's syndrome.
Eight patients with Larsen's syndrome were investigated and found to have a characteristic pattern of spinal deformity consisting… 
1983
1983
Congenital neural abnormalities presenting with mirror movements in a patient with Klippel-Feil syndrome. Case report.
A young girl with Klippel-Feil syndrome presented with the onset of mirror movements in early childhood. Computerized tomography… 
1974
1974
The autosomal recessive form of spondylocostal dysostosis.
A form of spondylocostal dysostosis marked by multiple vertebral clefts, costal bifurcation, and fusion was observed in 2 sisters… 
1972
1972
The Aicardi Syndrome
A case of Aicardi's syndrome is described. The main features are infantile spasms, pathognomonic chorioretinopathy, evidence of… 
1971
1971
Evidence for autosomal recessive inheritance of costovertebral dysplasia
Hereditary costovertebral dysplasia was ascertained in five children of two related sibships in a pattern consistent with… 
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