The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini‐Holmes‐Walton syndrome): Report of two patients
- 1 October 1985
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 22 (2) , 223-228
- https://doi.org/10.1002/ajmg.1320220202
Abstract
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.Keywords
This publication has 2 references indexed in Scilit:
- A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intoleranceThe American Journal of Medicine, 1976
- Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation.Journal of Medical Genetics, 1972