An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.
In three sibs of Jordanian descent a unique type of severe spondylo-meta-epiphyseal dysplasia results in extreme disproportionate dwarfism. They have a distinct facial appearance with hypotelorism, prognathia, and hypodontia. The limbs are short and the hands and feet stubby. Radiologically, the irregular end plates of the vertebral bodies, the very small and late appearing epiphyseal ossification centres, and the hypoplastic acetabular roofs are most impressive. Histopathologic studies of the growth plate demonstrate characteristic findings with fingerprint-like inclusion bodies in the hypertrophic chondrocytes. This seems to be a distinct, autosomal recessive skeletal dysplasia.
Menger
H
H
Children's Hospital, University of Mainz, Germany.
Mundlos
S
S
Becker
K
K
Spranger
J
J
Zabel
B
B
D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D005260:Female; D006132:Growth Plate / Q000473:pathology* / Q000648:ultrastructure; D006801:Humans; D007085:Ilium / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D009679:Nuclear Family; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D011859:Radiography