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Studies of malformation syndromes of man VB: the hypertelorism-hypospadias (BBB) syndrome. Case report and review.

Authors
Type
Published Article
Journal
European journal of pediatrics
Publication Date
Volume
125
Issue
1
Pages
1–13
Identifiers
PMID: 870322
Source
Medline
License
Unknown

Abstract

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.

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