Two Children with Saethre-Chotzen Syndrome Confirmed by the TWIST1 Gene Analysis
Journal of Genetic Medicine
;
: 130-134, 2011.
Article
in Korean
| WPRIM
| ID: wpr-163283
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Synostosis
/
Congenital Abnormalities
/
Acrocephalosyndactylia
/
Toes
/
Syndactyly
/
Craniosynostoses
/
Ear
/
Extremities
/
Genetic Counseling
/
Hearing Loss
Limits:
Child
/
Humans
Country/Region as subject:
Asia
Language:
Korean
Journal:
Journal of Genetic Medicine
Year:
2011
Type:
Article
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