Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Campomelic dysplasia

Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).

Gonadal dysgenesis

Total: 2

(per page)

PMID (PMCID)
8749940	FEMALE
	3-Year-old phenotypic female with campomelic dysplasia and bilateral gonadoblastoma.
	Hong JR, Barber M, Scott CI, Guttenberg M, Wolfson PJ. J Pediatr Surg. 1995;30(12):1735-7.
	Although campomelic dysplasia with gonadal dysgenesis should be expected to contribute to an increased risk of gonadoblastoma, this is the first documented case report of campomelic dysplasia and gonadoblastoma.
8749940	FEMALE
	3-Year-old phenotypic female with campomelic dysplasia and bilateral gonadoblastoma.
	Hong JR, Barber M, Scott CI, Guttenberg M, Wolfson PJ. J Pediatr Surg. 1995;30(12):1735-7.
	Although campomelic dysplasia with gonadal dysgenesis should be expected to contribute to an increased risk of gonadoblastoma, this is the first documented case report of campomelic dysplasia and gonadoblastoma.