The First Korean Case of Beare-Stevenson Syndrome with a Tyr375Cys Mutation in the Fibroblast Growth Factor Receptor 2 Gene.
10.3346/jkms.2007.22.2.352
- Author:
So Hee EUN
1
;
Ki Ssu HA
;
Bo Kyung JE
;
Eung Seok LEE
;
Byung Min CHOI
;
Jung Hwa LEE
;
Baik Lin EUN
;
Kee Hwan YOO
Author Information
1. Department of Pediatrics, Ansan Hospital, Korea University Medical Center, 516 Gojan-dong, Danwon-gu, Ansan, Korea. cbmin@korea.ac.kr
- Publication Type:Case Report
- Keywords:
Craniosynostosis;
Beare-Stevenson Syndrome;
Mutation;
FGFR2 Gene
- MeSH:
Syndrome;
Receptor, Fibroblast Growth Factor, Type 2/*genetics;
Polymorphism, Single Nucleotide/genetics;
Mutation;
Male;
Korea;
Infant, Newborn;
Humans;
Genetic Predisposition to Disease/genetics;
DNA Mutational Analysis;
Craniosynostoses/diagnosis/*genetics;
Craniofacial Abnormalities/diagnosis/genetics;
Abnormalities, Multiple/diagnosis/*genetics
- From:Journal of Korean Medical Science
2007;22(2):352-356
- CountryRepublic of Korea
- Language:English
-
Abstract:
Here we report the first case of a Korean infant with a cloverleaf-shaped craniosynostosis, in which the diagnosis of Beare-Stevenson syndrome was suspected upon observation of the typical morphological features. This infant exhibited craniofacial anomalies, ocular proptosis, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, hypospadia, and sacral skin tag coupled with dermal sinus tract. Brain magnetic resonance imaging revealed that the patient also had non-communicating hydrocephalus with Chiari malformation. This is the 8th report of Beare-Stevenson syndrome in the literature, which was confirmed by the detection of a Tyr375Cys mutation in the fibroblast growth factor receptor 2 (FGFR2) gene.
