Studies of malformation syndromes of man VB: The hypertelorism-hypospadias (BBB) syndrome

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.Supported by Grant 75/0186 from FAPESP (Fundação de Amparo à Pesquisa do Estado de São Paulo), São Paulo, BrazilSupported by DHEW/PHS Grant GM 20 130 from the National Institute of General Medical Sciences. Paper No. 2055 from the University of Wisconsin Laboratory of Genetics