Escobar (Multiple pterygium) syndrome – Report of a rare genetic disorder

Pterygium syndromes are a heterogeneous group of syndromes with sporadic, autosomal recessive or autosomal dominant inheritance. Multiple pterygium syndrome is a rare, autosomal recessive inherited disorder manifested by two types - lethal and the non-lethal type. Escobar syndrome is the name given to the non-lethal type. The characteristic features of this syndrome are congenital arthrogryposis, pterygia and spine deformities. In this case report we present a seven year old Indian boy with characteristic facial and radiographic features suggestive of this syndrome. Patient’s syndromic features, intra oral findings, and management are also discussed.