학술논문
Autosomal Recessive Cutis Laxa Type II: Report of Novel Mutation in a Child.
Document Type
Article
Source
Subject
*CUTIS laxa
*MUSCLE dysmorphia
*
Language
ISSN
2229-5178
Abstract
Autosomal recessive cutis laxa type-II (ARCLII) is a spectrum of clinical disorders with prenatal and postnatal growth retardation, cutis laxa, dysmorphism, and skeletal abnormalities. We report the case of a 14-month-old boy with developmental delay, hypotonia, dysmorphism, and loose skin. A novel homozygous variant was observed in ATP6VOA2 gene. Clinical spectrum of ARCLII is highly heterogeneous and molecular analysis should be done to confirm the diagnosis. [ABSTRACT FROM AUTHOR]