These authors contributed equally to this work.
Craniofacial and intraoral phenotype of Robinow syndrome forms
Article first published online: 16 MAY 2011
© 2011 John Wiley & Sons A/S
Volume 80, Issue 1, pages 15–24, July 2011
How to Cite
Beiraghi, S., Leon-Salazar, V., Larson, B., John, M., Cunningham, M., Petryk, A. and Lohr, J. (2011), Craniofacial and intraoral phenotype of Robinow syndrome forms. Clinical Genetics, 80: 15–24. doi: 10.1111/j.1399-0004.2011.01683.x
- Issue published online: 8 JUN 2011
- Article first published online: 16 MAY 2011
- Accepted manuscript online: 15 APR 2011 10:31AM EST
- Received 12 December 2010, revised and accepted for publication 11 April 2011
- craniofacial anomaly;
- Robinow syndrome
Beiraghi S, Leon-Salazar V, Larson BE, John MT, Cunningham ML, Petryk A, Lohr JL. Craniofacial and intraoral phenotype of Robinow syndrome forms.
Robinow syndrome (RS) is a rare genetic condition with two inheritance forms, autosomal dominant RS (DRS) and autosomal recessive RS (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. 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. 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 RS 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. Craniofacial and intraoral findings are highly variable in RS, with abnormalities of the intraoral structures being more prominent in the DRS 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.