Thoracic dysplasia-hydrocephalus syndrome

Last updated
Thoracic dysplasia-hydrocephalus syndrome
Autosomal recessive - en.svg
Specialty Medical genetics
Usual onsetBirth
Preventionnone
Prognosis poor; 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. [1] [2] [3] [4] It has been described in two siblings born to consanguineous Pakistani parents. [5]

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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