Studies of malformation syndromes of man VB: the hypertelorism-hypospadias (BBB) syndrome. Case report and review.
We describe a boy with the hypertelorism-hypospadias (BBB) syndrome. His mother and his maternal grandmother showed minor manifestations suggestive of the syndrome. The BBB syndrome is a syndrome of multiple congenital anomalies with mental retardation due a segregating mendelian mutation, either X-linked or autosomal. This paper reviews the literature on the subject and emphasizes the problem of identifying females at high risk of transmitting the condition.
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D003394:Craniofacial Dysostosis / Q000150:complications*; D006579:Heterozygote; D006801:Humans; D006972:Hypertelorism / Q000150:complications* / Q000235:genetics; D007021:Hypospadias / Q000150:complications* / Q000235:genetics; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D008297:Male; D010375:Pedigree; D013577:Syndrome