The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndromes.
The BBB and G syndromes are multiple congenital anomaly (MCA) syndromes characterized by a developmental defect of the midline field. Prominent clinical manifestations are hypertelorism and, in males, hypospadias. Transmission is most likely autosomal dominant in both syndromes. Examination of two new cases and scrutiny of the literature led us to conclude that there are no discriminating qualitative differences between the two conditions. Therefore we propose that they both be designated by the common term "Opitz syndrome."
Cappa
M
M
Ospedale Pediatrico Bambino Gesù, Istituto di Ricerca Scientifica, Rome, Italy.
Borrelli
P
P
Marini
R
R
Neri
G
G
D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002675:Child, Preschool; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D008297:Male; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome; D009626:Terminology as Topic