[Acromesomelic dysplasia. Apropos of a new case].
The authors report a 4 year 5 month-old Algerian girl with acromesomelic dwarfism. The dwarfism was severe (-6 SD) with kyphoscoliosis at the thoraco-lumbar junction induced by major involvement of the spine between D11 and L1. Shortening of the tubular bones was symmetrical, interesting especially the upper limbs, involving middle and distal segments. Intellectual development was normal. The parents were first cousins of normal height, like the 2 younger sisters.
D002675:Child, Preschool; D003241:Consanguinity; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital; D011859:Radiography
La dysplasie acromésomélique. A propos d'une nouvelle observation.