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

49,XXXXY syndrome

The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.

Radioulnar synostosis

An abnormal osseous union (fusion) between the radius and the ulna.

Total: 1

(per page)

PMID (PMCID)
17728969	MALE	Infant, Newborn
	A rare case of ambiguous genitalia.
	Ng SF, Boo NY, Wu LL, Shuib S. Singapore Med J. 2007;48(9):858-61.
	We report a term male newborn with 49,XXXXY syndrome presenting with ambiguous genitalia, multiple extra-gonadal anomalies, facial dysmorphism, and radioulnar synostosis.