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

J Clin Diagn Res

Professor and Head of Department, Department of Oral Pathology, Terna Dental College and Hospital, Navi Mumbai, Maharashtra, India .

Published: March 2016

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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4843398PMC
http://dx.doi.org/10.7860/JCDR/2016/16318.7469DOI Listing

Publication Analysis

Top Keywords

robinow's syndrome
12
autosomal recessive
8
syndrome rare
8
rare case
8
orofacial manifestations
4
manifestations autosomal
4
recessive robinow's
4
case report
4
report robinow's
4
rare genetic
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!