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

Hypochondroplasia

Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Cloverleaf skull

Trilobar skull configuration when viewed from the front or behind.

Total: 2

(per page)

PMID (PMCID)
9842995	MALE	Child
	Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association.
	Angle B, Hersh JH, Christensen KM. Clin Genet. 1998;54(5):417-20.
	Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association.
9842995	MALE	Child
	Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association.
	Angle B, Hersh JH, Christensen KM. Clin Genet. 1998;54(5):417-20.
	The occurrence of a cloverleaf skull deformity appears to represent an example of variable expressivity in hypochondroplasia and suggests that additional factors other than a specific mutation can modify the phenotype in this disorder.