A Case of Langer-Giedion Syndrome with a De Novo Del(8)(q23q24.1).

Lee,  Jung Min; Lee,  Seul Bee; Lee,  Sang Won; Shim,  So Yeon; Cho,  Su Jin; Park,  Eun Ae; Huh,  Jung Won

doi:2015.22.2.112

Neonatal Med > Volume 22(2); 2015 > Article

Case Report

Neonatal Medicine 2015;22(2):112-116.
DOI: https://doi.org/10.5385/nm.2015.22.2.112 Published online May 29, 2015.

A Case of Langer-Giedion Syndrome with a De Novo Del(8)(q23q24.1).

Jung Min Lee, Seul Bee Lee, Sang Won Lee, So Yeon Shim, Su Jin Cho, Eun Ae Park, Jung Won Huh

¹Department of Pediatrics, Ewha Womans University School of Medicine, Seoul, Korea. pea8639@ewha.ac.kr
²Department of Laboratory Medicine, Ewha Womans University School of Medicine, Seoul, Korea.

Abstract

Lange-Giedion syndrome, or trichorhinophalangeal syndrome type 2 (TRPSII), is a clinical syndrome characterized by mild growth restriction, mental retardation, microcephaly and dysmorphic face. Bulbous nose, large protruding ears and loose redundant skin are distinguishing features, as well as lax joints and phalangeal abnormalities of the hands and multiple exostoses. TRPS1 and EXT1 gene deletion are responsible for this. Diagnosis is mainly based on clinical and radiographic features. In Korea, no cases of this disease have been reported thus far. Along with a review of the literature, we report a case of TRPSII in a neonate who had peculiar face representing TRPSII, polydactyly, Mullerian duct cyst, and ptosis and was found to have an interstitial deletion of 8q23-24.1.

Key Words: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2; TRPSII