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).

Bowing of the long bones

A bending or abnormal curvature of a long bone.

合計: 4

（表示件数）

PMID (PMCID)
20812307	FEMALE	Adult
	Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene.
	Gentilin B, Forzano F, Bedeschi MF, Rizzuti T, Faravelli F, Izzi C, Lituania M, Rodriguez-Perez C, Bondioni MP, Savoldi G, Grosso E, Botta G, Viora E, Baffico AM, Lalatta F. Ultrasound Obstet Gynecol. 2010;36(3):315-23.
	Campomelic dysplasia is a rare congenital skeletal disorder characterized by bowing of the long bones and a variety of other skeletal and extraskeletal defects, many of which can now be identified prenatally using advanced ultrasound equipment.
12687888	MIXED_SAMPLE	Infant, Newborn
	Variable expression of campomelic dysplasia in a father and his 46, XY daughter.
	Savarirayan R, Robertson SP, Bankier A, Rogers JG. Pediatr Pathol Mol Med. 2003;22(1):37-46.
	Campomelic dysplasia (CD, MIM 114290) is characterised by widespread osseous abnormalities including bowing of the long bones, dysplasia of the cartilage of the tracheobronchial tree, and neurological abnormalities leading to high perinatal lethality.
6705404	FEMALE	Child
	Orthopaedic problems associated with survival in campomelic dysplasia.
	Ray S, Bowen JR. Clin Orthop Relat Res. 1984;(185):77-82.
	In the early part of this century sporadic reports of campomelic dysplasia appeared in the literature, along with reports of other entities, under the term "congenital bowing of the long bones."
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.