A Case of Langer-Giedion Syndrome with a De Novo Del(8)(q23q24.1)
Neonatal Medicine
;
: 112-116, 2015.
Article
in Korean
| WPRIM
| ID: wpr-125632
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Skin
/
Langer-Giedion Syndrome
/
Nose
/
Exostoses, Multiple Hereditary
/
Gene Deletion
/
Polydactyly
/
Diagnosis
/
Ear
/
Hand
/
Joints
Type of study:
Diagnostic study
Limits:
Humans
/
Infant, Newborn
Country/Region as subject:
Asia
Language:
Korean
Journal:
Neonatal Medicine
Year:
2015
Type:
Article
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