Two Children with Saethre-Chotzen Syndrome Confirmed by the TWIST1 Gene Analysis.
- Author:
Jung Min KO
1
;
Jung Ah YANG
;
Seon Yong JEONG
;
Soo Han YOON
Author Information
1. Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Craniosynostosis;
Coronal synostosis;
Brachycephaly;
TWIST1
- MeSH:
Acrocephalosyndactylia;
Child;
Congenital Abnormalities;
Craniosynostoses;
Ear;
Extremities;
Genetic Counseling;
Hearing Loss;
Humans;
Hypertelorism;
Korea;
Molecular Biology;
Syndactyly;
Synostosis;
Toes
- From:Journal of Genetic Medicine
2011;8(2):130-134
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Saethre-Chotzen syndrome is an autosomal dominant craniosynostosis syndrome, usually involving unior bilateral coronal synostosis and mild limb deformities, and is induced by loss-of-function mutations of the TWIST1 gene. Other clinical features of this syndrome include ptosis, low-set ears, hearing loss, hypertelorism, broad great toes, clinodactyly, and syndactyly. The authors of the present study report 2 children with clinical features of Saethre-Chotzen syndrome who showed mutations in the TWIST1 gene, and is the first molecular genetic confirmation of Saethre-Chotzen syndrome in Korea. The molecular genetic testing of the TWIST1 gene for patients with coronal synostoses is important to confirm the diagnosis and to provide adequate genetic counseling.
