A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia.
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.
D000015:Abnormalities, Multiple / Q000097:blood / Q000235:genetics*; D000328:Adult; D002648:Child; D005260:Female; D005654:Fundus Oculi; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007626:Kell Blood-Group System / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000097:blood / Q000235:genetics*; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000473:pathology*; D012021:Reflex, Abnormal / Q000151:congenital / Q000235:genetics*; D012164:Retinal Diseases / Q000097:blood / Q000151:congenital / Q000235:genetics*; D013577:Syndrome
D007626:Kell Blood-Group System