Title: A newly recognized syndromeof multiple congenital anomalies
Abstract: Three unrelated male children have been found to have a strikingly similar pattern ofmultiple congenital anomalies which suggests a common etiology. In addition to relative microcephaly with mental retardation and hypertonicity, these patients have incomplete development of the external genitals and abnormalities of the face, hands, and feet. Congenital pyloric stenosis was present in two of them. No chromosomal abnormality was found and the cause remains obscure though the apparent occurrence of the same condition in a deceased sibling of one of the patients suggests a genetic determination. Three unrelated male children have been found to have a strikingly similar pattern ofmultiple congenital anomalies which suggests a common etiology. In addition to relative microcephaly with mental retardation and hypertonicity, these patients have incomplete development of the external genitals and abnormalities of the face, hands, and feet. Congenital pyloric stenosis was present in two of them. No chromosomal abnormality was found and the cause remains obscure though the apparent occurrence of the same condition in a deceased sibling of one of the patients suggests a genetic determination.
Publication Year: 1964
Publication Date: 1964-02-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
Access and Citation
Cited By Count: 655
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