An unclassifiable type of spondylo-peripheral epiphyseal dysplasia associated with 21 trisomy.
We present an unusual type of skeletal dysplasia in a 6 1/2 year-old female child with Down syndrome due to classical 21 trisomy. Differential diagnosis with the pseudoachrondroplastic forms of spondyloepiphyseal dysplasia shows that the epiphyseal changes in the present patient are unique and do not allow to classify the skeletal changes of the present patient in this group of disorders.
Ioan
D M
DM
Department of Clinical Genetics, Institute of Endocrinology C.I. Parhon, Bucarest, Roumania.
Popa
M
M
Fryns
J P
JP
D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D004314:Down Syndrome / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D010009:Osteochondrodysplasias / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D011859:Radiography