A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia.

Abstract	We describe two brothers with severe microcephaly, unusual retinal pigmentary anomalies, intellectual function in the average or low average range, and a strong family history of hyperreflexia. The brothers have a previously undescribed syndrome, while the hyperreflexia appears to represent a coincidental autosomal dominant Mendelian trait, perhaps linked to the Kell blood group system.
Authors	J T Parke, V M Riccardi, R A Lewis, R E Ferrell
Journal	American journal of medical genetics (Am J Med Genet) Vol. 17 Issue 3 Pg. 585-94 (Mar 1984) ISSN: 0148-7299 [Print] United States
PMID	6711609 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References	Kell Blood-Group System
Topics	Abnormalities, Multiple (blood, genetics) Adult Child Female Fundus Oculi Genes, Dominant Genetic Linkage Humans Infant Kell Blood-Group System (genetics) Male Microcephaly (blood, genetics) Pedigree Pigment Epithelium of Eye (pathology) Reflex, Abnormal (congenital, genetics) Retinal Diseases (blood, congenital, genetics) Syndrome

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