Orofacial Manifestations of Autosomal Recessive Robinow's Syndrome: A Rare Case Report.

Autor: Mali S; Lecturer, Department of Oral Medicine and Radiology, Terna Dental College and Hospital , Navi Mumbai, Maharashtra, India ., Bansal N; Assistant Professor, Department of Oral Medicine and Radiology, Government Dental College , Aurangabad, Maharashtra, India ., Dhokar A; Professor and Head of Department, Department of Oral Medicine and Radiology, Terna Dental College and Hospital , Navi Mumbai, Maharashtra, India ., Yadav M; Professor and Head of Department, Department of Oral Pathology, Terna Dental College and Hospital , Navi Mumbai, Maharashtra, India .
Jazyk: angličtina
Zdroj: Journal of clinical and diagnostic research : JCDR [J Clin Diagn Res] 2016 Mar; Vol. 10 (3), pp. ZD09-10. Date of Electronic Publication: 2016 Mar 01.
DOI: 10.7860/JCDR/2016/16318.7469
Abstrakt: Robinow's syndrome is a very rare genetic disorder which bears a resemblance to a foetal face. It is characterized by short-limbed dwarfism, defects in vertebral segmentation and abnormalities in the head, face and external genitalia. It has a genetic heterogeneity with autosomal dominant and recessive forms which relates to the severity of phenotype presentation. A rare case of an autosomal recessive form of Robinow's syndrome is presented with emphasis on, characteristic craniofacial and intraoral manifestations to aid in diagnosis and dental management of this patient.
Databáze: MEDLINE