Acromesomelic-spondyloepiphyseal dysplasia associated with congenital optic atrophy: report of a family.
作者信息
Sener R N, Ustun E E, Ozkinay C, Memis A, Oyar O
机构信息
Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.
出版信息
Pediatr Radiol. 1993;23(4):321-4. doi: 10.1007/BF02010928.
PMID:8414767
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.
摘要
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