Thoracic dysplasia-hydrocephalus syndrome
| Thoracic dysplasia-hydrocephalus syndrome | |
|---|---|
 | |
| Specialty | Medical genetics |
| Usual onset | Birth |
| Prevention | none |
| Prognosis | poor; respiratory failure soon after birth is common |
| Deaths | 2 |
Thoracic dysplasia-hydrocephalus syndrome is a rare autosomal recessive genetic disorder characterized by shortening of the ribs, narrowing of the chest, mild shortening of the limbs (rhizomelia), hydrocephalus, and variable developmental delays.[1][2][3][4] It has been described in two siblings born to consanguineous Pakistani parents.[5]
References
[edit]- ^ "Thoracic dysplasia hydrocephalus syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-08-04.
- ^ "Clinical Synopsis - 273730 - THORACIC DYSPLASIA-HYDROCEPHALUS SYNDROME - OMIM". omim.org. Retrieved 2022-08-04.
- ^ "Thoracic dysplasia-hydrocephalus syndrome (Concept Id: C1848864) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-08-04.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Thoracic dysplasia hydrocephalus syndrome". www.orpha.net. Retrieved 2022-08-04.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ Winter, Campbell, Wigglesworth, Nevrkla, R M, S, J S, E J (1987-04-01). "A previously undescribed syndrome of thoracic dysplasia and communicating hydrocephalus in two sibs, one diagnosed prenatally by ultrasound". Journal of Medical Genetics. 24 (4): 204–206. doi:10.1136/jmg.24.4.204. PMC 1049995. PMID 3295244.
{{cite journal}}: CS1 maint: multiple names: authors list (link)
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