The Opitz syndrome: A new designation for the clinically indistinguishable BBB and G syndromes

M. Cappa, P. Borrelli, R. Marini, G. Neri

Research output: Contribution to journalArticlepeer-review

Abstract

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.'

Original languageEnglish
Pages (from-to)303-309
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume28
Issue number2
Publication statusPublished - 1987

ASJC Scopus subject areas

  • Genetics(clinical)

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