Acromesomelic-spondyloepiphyseal dysplasia associated with congenital optic atrophy: report of a family.
We report a family with a unique combination of radiological manifestations of acromesomelic dysplasia and spondyloepiphyseal dysplasia in two members (a man and his daughter) associated with congenital optic atrophy in four generations. The inheritance pattern of this complex anomaly appeared to be autosomal dominant.
Sener
R N
RN
Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.
Ustun
E E
EE
Ozkinay
C
C
Memis
A
A
Oyar
O
O
D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D015418:Optic Atrophies, Hereditary / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography