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Thoracic dysplasia-hydrocephalus syndrome

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Medical condition
Thoracic dysplasia-hydrocephalus syndrome
SpecialtyMedical genetics
Usual onsetBirth
Preventionnone
Prognosispoor; respiratory failure soon after birth is common
Deaths2

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. It has been described in two siblings born to consanguineous Pakistani parents.

References

  1. "Thoracic dysplasia hydrocephalus syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-08-04.
  2. "Clinical Synopsis - 273730 - THORACIC DYSPLASIA-HYDROCEPHALUS SYNDROME - OMIM". omim.org. Retrieved 2022-08-04.
  3. "Thoracic dysplasia-hydrocephalus syndrome (Concept Id: C1848864) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-08-04.
  4. 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)
  5. 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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