Brief clinical report: HARD (+/- E) syndrome: report of a sixth family with support for autosomal-recessive inheritance.
We report on two sibs with hydrocephalus, encephalocele, agyria and ocular anomalies, an association known as the HARD +/- E syndrome. This is thought to be the sixth reported family and third instance of familial occurrence of this autosomal-recessive syndrome which deserves consideration in the nosology of every case of neural tube defect (hydrocephalus).
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D004677:Encephalocele / Q000235:genetics*; D005124:Eye Abnormalities; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome