A 26-month-old child with Marden-Walker syndrome and pyloric stenosis.
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 syndrome. 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.
D000015:Abnormalities, Multiple / Q000150:complications* / Q000503:physiopathology; D002675:Child, Preschool; D006801:Humans; D011707:Pyloric Stenosis / Q000150:complications* / Q000503:physiopathology; D013577:Syndrome