Holoprosencephaly and endocrine dysgenesis in brothers.
We report 2 brothers with holoprosencephaly, endocrine dysgenesis, and micropenis. This combination has been reported once previously in sibs (2 sisters) by Hintz et al (1968). In that case, autosomal recessive inheritance may have been the cause. The same may be true in our patients, but X-linked recessive inheritance is not excluded.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D004700:Endocrine System Diseases / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D014960:X Chromosome