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Craniofacial and intraoral phenotype of Robinow syndrome forms.
MedLine Citation:
PMID:  21496006     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Robinow syndrome is a rare genetic condition with two inheritance forms, autosomal dominant (DRS) and autosomal recessive (RRS). The characteristic features of this syndrome overlap in both inheritance forms, which make the clinical differential diagnosis difficult, especially in isolated cases. The objective of this study was to identify differences in the craniofacial and intraoral phenotype of patients with DRS and RRS. Materials and Methods: The characteristics and frequency of 13 facial and 13 intraoral clinical features associated with both DRS and RRS were assessed by direct dysmorphology examination and using a digital photographic analysis in 12 affected subjects. Results: Although the phenotypic presentation varied and overlapped in the two forms of the syndrome, there were differences in the severity of the craniofacial and intraoral features. The craniofacial dysmorphology of Robinow syndrome was more severe in RRS. Nasal anomalies were the most frequent craniofacial features in both DRS and RRS. In contrast, intraoral features such as wide retromolar ridge, alveolar ridge deformation, malocclusion, dental crowding and hypodontia were more severe in patients with DRS. Overall, facial characteristics appeared less pronounced in adult subjects compared to younger subjects. Conclusion: Craniofacial and intraoral findings are highly variable in Robinow syndrome, with abnormalities of the intraoral structures being more prominent in the autosomal dominant form. We propose that the difference in the alveolar ridge deformation pattern and severity of other intraoral characteristics could enhance the differential diagnosis of the two forms of this syndrome.
Authors:
Soraya Beiraghi; Vladimir Leon-Salazar; Brent E Larson; Mike T John; Michael L Cunningham; Anna Petryk; Jamie L Lohr
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-4-15
Journal Detail:
Title:  Clinical genetics     Volume:  -     ISSN:  1399-0004     ISO Abbreviation:  -     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-4-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2011 John Wiley & Sons A/S.
Affiliation:
Department of Developmental and Surgical Sciences, University of Minnesota School of Dentistry, Minneapolis, MN, USA. Department of Diagnostic and Biological Sciences, University of Minnesota School of Dentistry, Minneapolis, MN, USA. Division of Craniofacial Medicine, Seattle Children's Hospital; Department of Pediatrics, University of Washington School of Medicine, WA, USA. Department of Genetics, Cell Biology and Development; Department of Pediatrics, University of Minnesota School of Medicine, Minneapolis, MN, USA. Department of Pediatric Cardiology, University of Minnesota School of Medicine and Amplatz Children's Hospital, Minneapolis, MN, USA.
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