An autosomal recessive variant of spondylo-epiphyseal dysplasia in three sibs.
A report of one male and two female sibs with an unusual form of spondylo-epiphyseal dysplasia (SED) manifesting in late childhood. The anomalies are pronounced at the femoral head. There is platyspondyly with biconcave deformation and irregular vertebral end-plates. As the parents are healthy autosomal recessive inheritance is likely.
Pfeiffer
R A
RA
Institut für Humangenetik, Friedrich-Alexander Universität Erlangen-Nürnberg, FRG.
Suess
J
J
Haagen
M
M
D000293:Adolescent; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography