[Acro-coxo-mesomelic dwarfism: a new variety of autosomal recessive dwarfism].
Acro-coxo-mesomelic dwarfism seems to be a new autosomal recessive entity, one compatible with survival. This severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine. Other malformations are clubhand and foot, short malformed fingers, and reduced articular mobility of elbows and hips with radial and femoral dislocations. Skeletal X-rays show the following: delayed bone age; mesomelic shortening of the limbs with cubitus brevus, radius curvus, and mostly fibula agenesis; severe acromelic deformities with clinodactyly of the IIIrd, IVth, and Vth digits and brachyrhizophalangia of the IInd and Vth digits. Brachymetacarpia is diffuse, with a "squashed candle" appearance. The IInd metacarpals and the proximal phalanx of the Vth digits have a peculiar "butterfly wings" appearance. The toes are shortened with a "drumstick" appearance and phalangeal hypoplasia, mostly of the midphalanges; hip dislocation and dysplasia (coxomelic), with hypoplasia of the femoral head and a coxa vara cylindric neck.
D000293:Adolescent; D000365:Age Determination by Skeleton; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics / Q000473:pathology*; D025063:Chromosome Disorders; D003025:Clubfoot / Q000235:genetics; D004392:Dwarfism / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male; D010005:Osteoarthropathy, Secondary Hypertrophic / Q000235:genetics; D010375:Pedigree
Le nanisme acro-coxo-mésomélique: variété nouvelle de nanisme récessif autosomique.