A Case of Marden-Walker Syndrome.
- Author:
Hyun Jong CHO
1
;
Yoon Kyung LEE
;
Dong Un KIM
;
Byung Joon CHOI
;
Jin Tack KIM
;
Ik Jun LEE
;
Je Gun JI
Author Information
1. Department of Pediatrics, College of Medecine, The Catholic University of Korea.
- Publication Type:Case Report
- Keywords:
Marden-Walker syndrome
- MeSH:
Arachnodactyly;
Blepharophimosis;
Contracture;
Humans;
Infant;
Infant, Newborn;
Joints;
Muscle Hypotonia;
Pneumonia, Aspiration
- From:Journal of the Korean Pediatric Society
1999;42(10):1471-1474
- CountryRepublic of Korea
- Language:Korean
-
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.