The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini-Holmes-Walton syndrome): report of two patients.
We report on two daughters, born to consanguineous parents, who had severe mental retardation, microcephaly, retinal pigmentary degeneration, and spastic cerebral palsy. We think that this syndrome is the same as that described by Mirhosseini et al [1972] (McK-26805). The presence of consanguinity favors the hypothesis of autosomal recessive inheritance.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002547:Cerebral Palsy / Q000235:genetics; D002648:Child; D003241:Consanguinity; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree; D012162:Retinal Degeneration / Q000235:genetics*; D013577:Syndrome