title: Acromesomelic-spondyloepiphyseal dysplasia associated with congenital optic atrophy: report of a family.
abstract: 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.
authors.affiliation: Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.
authors.forename: R N
authors.initials: RN
authors.lastname: Sener
authors.forename: E E
authors.initials: EE
authors.lastname: Ustun
authors.forename: C
authors.initials: C
authors.lastname: Ozkinay
authors.forename: A
authors.initials: A
authors.lastname: Memis
authors.forename: O
authors.initials: O
authors.lastname: Oyar
mesh_terms: 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