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dysplázia kampomelická

Č. záznamu	d055036
Dátum	06.06.2025
Typ	M
Tematický termín	dysplázia kampomelická
Pozri tiež	(Novšie záhlavie) Pierre Robinov syndróm (Skutočné meno) Pierre Robinov syndróm
MDT	C05.660.142C16.131.621.142
Poznámka	A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 TRANSCRIPTION FACTOR gene.

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