Neonatal Med.
2015 May;22(2):112-116. 10.5385/nm.2015.22.2.112.
A Case of Langer-Giedion Syndrome with a De Novo Del(8)(q23q24.1)
- Affiliations
-
- 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.
- KMID: 2052170
- DOI: http://doi.org/10.5385/nm.2015.22.2.112
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.
