Robinow Syndrome: a Rare Case Report from a Tertiary Care Hospital in Eastern India

Background Robinow syndrome is a rare congenital disorder with phenotypically heterogeneous abnormalities. Two modes of inheritances are known for this syndrome namely autosomal recessive and autosomal dominant. Case Report We describe here an eighteen-month-old child who had mesomelic short stature, abnormal facial features, clinodactyly, micropenis and vertebral changes which were further supported radiologically. The case was the first of his kind, which came to our hospital. The diagnosis was challenging and ascertained only after confirmation with multiple specialties and various interdepartmental discussions. Conclusion The syndrome is rare and hence is less known among health care workers. Also, the prenatal testing which is available for the entity needs to be explained to the suspected mothers.

Keywords:

autosomal recessive , Child , Facial dysmorphism , Short stature