The First Korean Case of Beare-Stevenson Syndrome with a Tyr375Cys Mutation in the Fibroblast Growth Factor Receptor 2 Gene

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, acanthosi...

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Detalles Bibliográficos
Autores principales: Eun, So-Hee, Ha, Ki Ssu, Je, Bo-Kyung, Lee, Eung Seok, Choi, Byung Min, Lee, Jung Hwa, Eun, Baik-Lin, Yoo, Kee Hwan
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2007
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2693607/
https://www.ncbi.nlm.nih.gov/pubmed/17449949
http://dx.doi.org/10.3346/jkms.2007.22.2.352
Descripción
Sumario: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.

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