| Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2. | |
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MedLine Citation:
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PMID: 12400058 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Mutations in the fibroblast growth factor receptor genes (FGFR) have been known to be associated with many craniosynostosis syndromes with overlapping phenotypes. We studied a 15-year-old Thai boy with an unspecified craniosynostosis syndrome characterized by multiple suture craniosynostoses, a persistent anterior fontanel, corneal scleralization, choanal stenosis, atresia of the auditory meatus, broad thumbs and great toes, severe scoliosis, acanthosis nigricans, hydrocephalus, and mental retardation. Radiography revealed bony ankyloses of vertebral bodies of T9-12, humero-radio-ulnar joints, intercarpal joints, distal interphalangeal joints of fifth fingers, fibulo-tibial joints, intertarsal joints, and distal interphalangeal joints of the first toes. The patient was a heterozygous for a 870G --> T change resulting in a W290C amino acid substitution in the extracellular domain of the fibroblast growth factor receptor 2 gene (FGFR2). This mutation has previously been reported in a patient with severe Pfeiffer syndrome type 2 that is distinct from the craniosynostosis in our patient. These findings emphasize locus, allelic, and phenotypic heterogeneity of craniofacial-skeletal-dermatological syndrome due to FGFR2 mutations. |
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Authors:
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Vorasuk Shotelersuk; Chupong Ittiwut; Sumarlee Srivuthana; Charan Mahatumarat; Sukalaya Lerdlum; Suthipong Wacharasindhu |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: American journal of medical genetics Volume: 113 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 2002 Nov |
Date Detail:
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Created Date: 2002-10-25 Completed Date: 2003-03-26 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: United States |
Other Details:
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Languages: eng Pagination: 4-8 Citation Subset: IM |
Copyright Information:
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Copyright 2002 Wiley-Liss, Inc. |
Affiliation:
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Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics*,
radiography Adolescent Amino Acid Substitution* Craniofacial Abnormalities / genetics*, radiography Humans Male Receptor Protein-Tyrosine Kinases / genetics* Receptor, Fibroblast Growth Factor, Type 2 Receptors, Fibroblast Growth Factor / genetics* Skin / pathology* Thailand |
| Chemical | |
Reg. No./Substance:
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0/Receptors, Fibroblast Growth Factor; EC 2.7.1.112/FGFR2 protein, human; EC 2.7.10.1/Receptor Protein-Tyrosine Kinases; EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 2 |
| Comments/Corrections | |
Comment In:
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Am J Med Genet. 2002 Nov 15;113(1):1-3
[PMID:
12400057
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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