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

Abstract

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.

Issue

AAJST 2014 Vol-1

Article Subject:

Medicine

Keywords:

Autosomal recessive, Escobar, multiple pterygium syndrome, sporadic

Download PDF:

N.B. Nagaveni et al, Afro Asian J SciTech,2014,1_1_,081-090

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