Elsevier

The Journal of Pediatrics

Volume 64, Issue 2, February 1964, Pages 210-217
The Journal of Pediatrics

Symposium on porphyrins: Part II
A newly recognized syndromeof multiple congenital anomalies**

https://doi.org/10.1016/S0022-3476(64)80264-XGet rights and content

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.

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**

This work was supported by a grant from the National Foundation, by a Public Health Service Research Career Program Award No. GH-K3-14,022 from the General Medicine Institute (D.W.S.), and by a Public Health Service Fellowship Grant GPD-18,982 (J.M.O.).

*

Associate Professor of Pediatrics, Universityof Wisconsin, University Hospitals, 1300 University Avenue, Madison 6, Wis.

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