A 26‐month‐old child with Marden‐Walker syndrome and pyloric stenosis
- 1 April 1987
- journal article
- review article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 26 (4) , 915-919
- https://doi.org/10.1002/ajmg.1320260420
Abstract
We recently examined a 26‐month‐old boy with abnormal face, blepharophimosis, hypertelorism, apparently low‐set ears, micrognathia, arachnodactyly, talipes equinovarus, and joint contractures. Subsequently he manifested failure to thrive, respiratory infections, and developmental delay. These congenital anomalies and associated findings are consistent with a diagnosis of the Marden‐Walker syn‐drome. He also had mild pyloric stenosis and duodenal bands, not previously reported in this syndrome. This syndrome appears to be an autosomal recessive trait in some families. A summary of findings of the 16 previous published patients is presented.Keywords
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