The G Syndrome
作者:
Inger Leer Pedersen,
Margareta Mikkelsen,
Jakob Øster,
期刊:
Human Heredity
(Karger Available online 1976)
卷期:
Volume 26,
issue 1
页码: 66-71
ISSN:0001-5652
年代: 1976
DOI:10.1159/000152784
出版商: S. Karger AG
关键词: G syndrome;Malformation syndrome;Laryngotracheal malformation;Autosomal dominant inheritance
数据来源: Karger
摘要:
A male infant with hypertelorism, hypospadias, swallowing difficulties with tendency to regurgitation and cough, high arched palate, and a delicate voice, consistent with the G syndrome, is reported. In the family the same symptoms in addition to cleft lip and palate were known in several family members through four generations. In the females only slight manifestations of the syndrome were found, and in the males variable expression of symptoms was observed. Autosomal dominant inheritance is likely, but X-linked inheritance cannot be ruled out.
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