Acromesomelic dwarfism: manifestations in childhood.
Acromesomelic dwarfism is a distinct condition characterized by short stature of the short limb type, with the hands and feet showing the most obvious deviations from normal. The forearm bones are usually disproportionately shorter than the other long tubular bones of the limbs. The intelligence is normal. Available data suggest autosomal recessive transmission. Characteristic clinical and radiographic features permit establishment of a confident diagnosis in the first year of life.
D000130:Achondroplasia / Q000175:diagnosis; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005542:Forearm / Q000002:abnormalities; D006228:Hand Deformities, Congenital; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D011859:Radiography; D013131:Spine / Q000002:abnormalities