학술논문
Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency.
Document Type
Article
Author
Source
Subject
*ICHTHYOSIS
*ULTRASONIC imaging
*HETEROZYGOSITY
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Language
ISSN
0736-8046
Abstract
We describe a case of collodion baby diagnosed prenatally by ultrasound. Classic signs (ectropion, flattened nose, and eclabion) were detected on routine ultrasound at 21 weeks of gestation. At birth, the presence of collodion membrane was confirmed and subsequently, the diagnosis of an autosomal recessive congenital ichthyosis due to compound heterozygosity of the TGM1 gene was made. [ABSTRACT FROM AUTHOR]