A Rare Disease with Unique Findings: ROR2-associated autosomal recessive Robinow syndrome

ABSTRACT

Robinow syndrome (RS) is a congenital skeletal dysplasia with autosomal dominant (DRS) and recessive (RRS) inheritance, characterized by distinctive craniofacial features, skeletal abnormalities and other anomalies. Causative genes are heterogeneous. Although all types of Robinow syndrome have generally similar clinical features, there is some genotype-phenotype correlation. Here, our aim is to describe the clinical findings of an 11 year-old female patient who applied for dental treatment, was referred to the pediatric genetics outpatient clinic due to dysmorphic features, and was diagnosed with ROR2-related Robinow syndrome.

Key words: Autosomal recessive, crooked teeth, mesomelia, robinow syndrome, ROR2, scoliosis