Micromelic dwarfism--humerus, femur, tibia type. Report of a case.
A 12.5-year-old girl with severe micromelic dwarfism and characteristic radiographic findings is reported. The most important phenotypic abnormality was dwarfism (stature < 100 cm); the patient had a normal face and intelligence. The diagnostic radiographic findings were those of spondylo-epimetaphyseal dysplasia characterized by severe shortening of humerus, femur and tibia, hypoplastic but normal-shaped fibula, ulna and radius, uniform shortening of the short tubular bones and moderately severe platyspondyly. These radiographic changes were already present at birth, which should make it possible to recognize the disease in the newborn. We propose naming this disorder micromelic dwarfism-humerus, femur, tibia type.
Baxova
A
A
Department of Clinical Genetics, Dererova Nemocnica, Bratislava, Slovakia.
Kozlowski
K
K
Netriova
I
I
D002648:Child; D004392:Dwarfism / Q000000981:diagnostic imaging*; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D006811:Humerus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D011859:Radiography; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging