A case of Smith-Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene.

ABSTRACT: We report the clinical features and genetic testing of a child with Smith-Magenis syndrome (SMS) to improve the understanding of this disease. The clinical data and molecular genetic test results of a child with SMS caused by a novel mutation in the retinoic acid-induced-1 (RAI1) gene were reviewed. A female patient aged 12 years and 9 months presented to the clinic because her mental and motor development was lagging behind that of her peers. The child had learning difficulties, poor motor coordination, temper tantrums, and self-injurious behaviors, such as skin scratching. She had a peculiar facial appearance, dry skin with scattered eczema, low hairline, wide forehead, flat face, collapsed nasal bridge, turned out upper lip, and deep palmar lines on the right hand through the palm. Wech

SUBMITTER: Wu X 

PROVIDER: S-EPMC10683568 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature