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Syndrome of cataract, mild microcephaly, mental retardation and Perthes-like changes in sibs
1Department of Human Genetics and Teratology, WHO Collaborating Centre for the Community Control of Hereditary Diseases, National Institute of Hygiene, Budapest, Hungary.
Acta Paediatrica Hungarica
|January 1, 1990
Abstract:
Cataract, microcephaly, mental retardation and Perthes-like changes in hips were found in two sibs. This combination of congenital anomalies may be a syndrome of autosomal recessive origin.