| Crouzonodermoskeletal syndrome. | |
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MedLine Citation:
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PMID: 14969379 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Crouzon craniostenosis [MIM 123500], is identified on the basis of the additional phenotypical manifestations of acanthosis nigricans, vertebral changes and cementomas of the jaws. Choanal atresia and hydrocephalus are other features. The molecular defect in CDSS is a point mutation in the FGFR3 gene on chromosome 4p, whereas, the mutation in the Crouzon syndrome is in the FGFR2 gene at 10q25.3-26. An affected girl aged 2 years presented at the UWC dental genetics unit with a prior diagnosis of Crouzon syndrome. Choanal atresia had necessitated a permanent tracheostomy, and hydrocephalus was managed by a shunt operation. Clinical examination revealed acanthosis nigricans in the axilliary regions, a diagnosis confirmed by a biopsy of the lesion. Eruption of the primary dentition was delayed with only six out of twenty teeth present. Radiographic examination conducted shortly after birth revealed the presence of several tooth buds in both the maxillae and the mandible. The delayed eruption of the teeth will be of significance in future orthodontic and maxillofacial measures for the improvement of the patient's facial Crouzonodermoskeletal syndrome (CDSS) was separated from the classical appearance. Molecular investigations in the girl and her parents are underway. If the specific mutation in FGFR3 is observed, a positive diagnosis of CDSS will be confirmed and the status of her parents and other family members will be determined. On this basis, appropriate genetic management can be offered to the kindred. |
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Authors:
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A Jeftha; L Stephen; J A Morkel; P Beighton |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: The Journal of clinical pediatric dentistry Volume: 28 ISSN: 1053-4628 ISO Abbreviation: J Clin Pediatr Dent Publication Date: 2004 |
Date Detail:
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Created Date: 2004-02-18 Completed Date: 2004-03-09 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 9100079 Medline TA: J Clin Pediatr Dent Country: United States |
Other Details:
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Languages: eng Pagination: 173-6 Citation Subset: D |
Affiliation:
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Faculty of Dentistry, University of the Western Cape, Dental Genetic Unit, Red Cross Memorial Children's Hospital, Cape Town, South Africa. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Acanthosis Nigricans
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pathology* Anodontia / etiology* Choanal Atresia / etiology, surgery Chromosomes, Human, Pair 4 / genetics* Craniofacial Dysostosis / complications, genetics, pathology*, surgery Facies* Female Fingers / abnormalities Humans Hydrocephalus / etiology, surgery Infant, Newborn Point Mutation Protein-Tyrosine Kinases* Receptor, Fibroblast Growth Factor, Type 3 Receptors, Fibroblast Growth Factor / genetics* Retrognathism Spine / abnormalities Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Receptors, Fibroblast Growth Factor; EC 2.7.1.112/FGFR3 protein, human; EC 2.7.10.1/Protein-Tyrosine Kinases; EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 3 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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