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).

Femoral bowing

Bowing (abnormal curvature) of the femur.

合計: 1

（表示件数）

PMID (PMCID)
643362	MIXED_SAMPLE	Infant, Newborn
	Syndromes of congenital bowing of the long bones.
	Kozlowski K, Butzler HO, Galatius-Jensen F, Tulloch A. Pediatr Radiol. 1978;7(1):40-8.
	The group was composed of three patients with Campomelic dwarfism, one with long bones bowing of Caffey's type, four with femoral bowing (two of them familial), one with bowing of the long bones of the lower limbs and one with bowing of the forearm bones.