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Atypical Crouzon Syndrome With a Novel Cys62Arg Mutation in FGFR2 Presenting With Sagittal Synostosis.

Abstract:

The management of a 1-year-old boy with Crouzonoid features is presented with a description of molecular genetic investigations that revealed a previously unreported mutation of the fibroblast growth factor receptor 2 (FGFR2) gene encoding the amino acid substitution p.Cys62Arg within the immunoglobin-like (IgI) domain. The patient presented in atypical fashion with severe sagittal synostosis but only mild exorbitism and hypertelorism. Owing to the progressively increasing size of the cranial...

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Publication status:
Published

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Publisher copy:
10.1597/11-185

Authors


Sharma, VP More by this author
Wilkie, AO More by this author
Journal:
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Volume:
49
Issue:
3
Pages:
373-377
Publication date:
2012-05-05
DOI:
EISSN:
1545-1569
ISSN:
1055-6656
URN:
uuid:fc9f412d-0455-4420-803f-6f7dca05e7d9
Source identifiers:
260871
Local pid:
pubs:260871
Language:
English
Keywords:

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