Skeletal dysplasia in an infant with hypertelorism, hypospadias, developmental delay, and a complex chromosomal translocation.
A male infant with hypertelorism and hypospadias was found to have skeletal changes suggesting metaphyseal dysplasia. Associated findings included congenital nystagmus, hearing impairment, and a complex translocation involving the number 5, 8, and 10 chromosomes. Although some of these abnormalities may be coincidental, they might represent infrequent components of the BBB syndrome. It is just as likely, however, that the syndrome is a new one.
D001848:Bone Diseases, Developmental / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10; D002895:Chromosomes, Human, Pair 5; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007021:Hypospadias / Q000235:genetics*; D007223:Infant; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014178:Translocation, Genetic