J Korean Pediatr Soc.
1999 Oct;42(10):1471-1474.
A Case of Marden-Walker Syndrome
- Affiliations
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- 1Department of Pediatrics, College of Medecine, The Catholic University of Korea.
- 2Department of Pathology, Seoul National University College of Medicine, Seoul, Korea.
Abstract
- Marden-Walder syndrome is characterized by a mask-like face, blepharophimosis, joint contractures, and psychometer retardation. We report a newborn infant with the clinical features of the syndrome. He was diagnosed with clinical findings of mask-like face, blepharophimosis, micrognathia, camptodactyly, arachnodactyly, multiple contractures, and hypotonia. The infant died of aspiration pneumonia at 5 months. A brief review of related literature is also presented.
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