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A Case of Langer-Giedion Syndrome with a De Novo Del(8)(q23q24.1)
Neonatal Medicine ; : 112-116, 2015.
Article in Korean | WPRIM (Western Pacific) | ID: wpr-125632
Responsible library: WPRO
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.
Subject(s)

Full text: Available Health context: SDG3 - Health and Well-Being / SDG3 - Target 3.4 Reduce premature mortality due to noncommunicable diseases / SDG3 - Target 3.2 Reduce avoidable death in newborns and children under 5 Health problem: Target 3.2: Reduce avoidable death in newborns and children under 5 / Congenital and Chromosomal Anomalies / Mental Health and Behavioral Disorders / Neonatal Healthcare / Nutrition Database: 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 Document type: Article
Full text: Available Health context: SDG3 - Health and Well-Being / SDG3 - Target 3.4 Reduce premature mortality due to noncommunicable diseases / SDG3 - Target 3.2 Reduce avoidable death in newborns and children under 5 Health problem: Target 3.2: Reduce avoidable death in newborns and children under 5 / Congenital and Chromosomal Anomalies / Mental Health and Behavioral Disorders / Neonatal Healthcare / Nutrition Database: 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 Document type: Article
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