A case report on autosomal recessive Robinow syndrome

Area of Science:

• Genetics
• Pediatrics
• Rare Diseases

Background:

• Robinow syndrome, also known as "foetal face" syndrome, is an extremely rare genetic disorder.
• It is characterized by specific skeletal and orofacial abnormalities.
• This report focuses on a case of autosomal recessive Robinow syndrome.

Observation:

• An 8-year-old female patient with consanguineous parents presented with typical recessive Robinow syndrome features.
• These included short stature, mesomelic limb shortening, vertebral anomalies, and facial dysmorphism.
• Unusually, the patient also exhibited root malformation in her mandibular incisors.

Findings:

• The case aligns with known skeletal and facial manifestations of autosomal recessive Robinow syndrome.
• A novel observation was the presence of root malformation in mandibular incisors, an atypical dental finding for this syndrome.
• The study underscores the significance of oral and dental manifestations in Robinow syndrome.

Implications:

• Early identification of dental anomalies can aid in the diagnosis of Robinow syndrome.
• Recognizing the full spectrum of manifestations, including dental, is crucial for comprehensive patient management.
• This case contributes to understanding the phenotypic variability of autosomal recessive Robinow syndrome.