Acromesomelic-spondyloepiphyseal dysplasia associated with congenital optic atrophy: report of 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...

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Veröffentlicht in:	Pediatric radiology 1993-07, Vol.23 (4), p.321-324
Hauptverfasser:	SENER, R. N, USTUN, E. E, OZKINAY, C, MEMIS, A, OYAR, O
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences Bone and Bones - diagnostic imaging Child, Preschool Female Humans Investigative techniques, diagnostic techniques (general aspects) Male Medical sciences Optic Atrophies, Hereditary - complications Optic Atrophies, Hereditary - diagnostic imaging Optic Atrophies, Hereditary - genetics Osteoarticular system. Muscles Osteochondrodysplasias - complications Osteochondrodysplasias - diagnostic imaging Osteochondrodysplasias - genetics Pedigree Radiodiagnosis. Nmr imagery. Nmr spectrometry Radiography
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Zusammenfassung:	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.
ISSN:	0301-0449 1432-1998
DOI:	10.1007/BF02010928