Kyphomelic dysplasia

A rare primary bone dysplasia characterized, radiologically, by short, stubby long bones, severely angulated femurs and lesser bowing of other long bones (mild, moderate or no bowing), short and wide illiac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature. Regression of femora angulation is observed with advancing age.

Micrognathia

Developmental hypoplasia of the mandible.

合計: 1

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PMID (PMCID)
10526661	FEMALE	Infant, Newborn
	Kyphomelic dysplasia: a report of a family with an autosomal dominant pattern.
	Toledo C, Navarro-Barros R, Alba L, Munoz E. Ann Genet. 1999;42(3):170-3.
	Kyphomelic dysplasia (KD) is a rare autosomal recessive entity characterized by shortening and bowing of the limbs, skin dimples, abnormalities of methaphysis and ribs, a short trunk, a narrow thorax, neonatal respiratory distress, platyspondyly, and facial dysceptism with micrognathia, midfacial hypoplasia, and a broad nasal bridge.