A case report on autosomal recessive Robinow syndrome

Abstract

Background: Robinow syndrome or "foetal face" syndrome is an extremely rare genetic disorder with characteristic skeletal and orofacial findings. The purpose of the present case report is to describe the clinical findings of an 8 year-old female patient with autosomal recessive Robinow syndrome.

Case report: The patient was born to consanguineous parents and had anomalies typical of the recessive type of the syndrome such as short stature, mesomelic limb shortening, vertebral anomalies and dysmorphic facial features. Besides typical orodental findings, she also had root malformation in mandibular incisors, which is unusual finding of recessive type of Robinow syndrome. This case report emphasizes the importance of oral and dental manifestations of this syndrome.