| Cleft palate in Pfeiffer syndrome. | |
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MedLine Citation:
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PMID: 19816260 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The frequency of associated cleft palate is known to be high in some fibroblast growth factor receptor 2 (FGFR2)-mediated craniosynostosis syndromes, such as Apert syndrome. However, there is little information on the frequency of palatal clefts in the FGFR2-mediated disorder, that is, Pfeiffer syndrome. The purpose of this study was to determine the frequency of palatal clefts in patients with Pfeiffer syndrome. The records of patients with Pfeiffer syndrome managed in our craniofacial unit were reviewed. Only patients with a confirmed diagnosis of Pfeiffer syndrome were included. Diagnostic criteria were as follows: characteristic mutations in FGFR1 or FGFR2 or, in the absence of genetic testing, clinical findings consistent with Pfeiffer syndrome as determined by a clinical geneticist or our most experienced surgeon (J.B.M.). Only 2 clefts were noted in 25 patients (8%), including 1 with a submucous cleft and 1 with an overt palatal cleft. Many patients (87%) were described as having a high-arched and narrow palate, and 1 had a low, broad palate. Nine patients were noted to have choanal atresia or stenosis. Clefting of the palate does occur in Pfeiffer syndrome but at a low frequency. |
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Authors:
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Joan M Stoler; Heather Rosen; Urmen Desai; John B Mulliken; John G Meara; Gary F Rogers |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: The Journal of craniofacial surgery Volume: 20 ISSN: 1536-3732 ISO Abbreviation: J Craniofac Surg Publication Date: 2009 Sep |
Date Detail:
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Created Date: 2009-10-09 Completed Date: 2010-01-28 Revised Date: 2010-05-26 |
Medline Journal Info:
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Nlm Unique ID: 9010410 Medline TA: J Craniofac Surg Country: United States |
Other Details:
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Languages: eng Pagination: 1375-7 Citation Subset: D |
Affiliation:
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Department of Genetics, Children's Hospital Boston and Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Acrocephalosyndactylia
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epidemiology*,
genetics Boston / epidemiology Choanal Atresia / epidemiology Cleft Palate / epidemiology* Female Genetic Testing Humans Male Mutation / genetics Palate / abnormalities Receptor, Fibroblast Growth Factor, Type 1 / genetics Receptor, Fibroblast Growth Factor, Type 2 / genetics Retrospective Studies Velopharyngeal Insufficiency / epidemiology |
| Chemical | |
Reg. No./Substance:
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EC 2.7.1.112/FGFR2 protein, human; EC 2.7.10.1/FGFR1 protein, human; EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 1; EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 2 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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