ACROMESOMELIC-SPONDYLOEPIPHYSEAL DYSPLASIA ASSOCIATED WITH CONGENITALOPTIC ATROPHY - REPORT OF A FAMILY

Authors
SENER RN USTUN EE OZKINAY C MEMIS A OYAR O
Citation
Rn. Sener et al., ACROMESOMELIC-SPONDYLOEPIPHYSEAL DYSPLASIA ASSOCIATED WITH CONGENITALOPTIC ATROPHY - REPORT OF A FAMILY, Pediatric radiology, 23(4), 1993, pp. 321-324
Citations number
4
Categorie Soggetti
Radiology,Nuclear Medicine & Medical Imaging",Pediatrics
Journal title
Pediatric radiology → ACNP
ISSN journal
03010449
Volume
23
Issue
4
Year of publication
1993
Pages
321 - 324
Database
ISI
SICI code
0301-0449(1993)23:4<321:ADAWC>2.0.ZU;2-G
Abstract
We report a family with a unique combination of radiological manifesta tions of acromesomelic dysplasia and spondyloepiphyseal dysplasia in t wo members (a man and his daughter) associated with congenital optic a trophy in four generations. The inheritance pattern of this complex an omaly appeared to be autosomal dominant.