[Campomelic dwarfism. Its placement in the heterogeneous group of congenital bowing of the limbs].
The campomelic (camptomelic) dwarfism is a rare congenital syndrome which includes, in addition to typical angulations of femora and tibiae (campomelia or camptomelia = bowed or bent limbs), other skeletal abnormalities and visceral lesions, particularly of the brain and of the respiratory tract, which are almost always responsible of early death. Congenital bowing of limbs are seen in various conditions: as isolated deformity (or component of a strictly localised deformity); as integrating part of a more extensive syndrome (the campomelic dwarfism falls within this subgroup); as secondary element of complex syndromes, such as the severe congenital demineralizations of the skeleton. The differential diagnosis must take into account this various conditions, together with other congenital dwarfisms, particularly those incompatible with life (see table 1 e 2). A typical case of campomelic dwarfism is presented.
D001842:Bone and Bones / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000145:classification / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007866:Leg / Q000002:abnormalities; D011859:Radiography
Il nanismo campomelico. Sua collocazione nel gruppo eterogeneo degli incurvamenti congeniti degli arti.