Escobar Syndrome - A Case Report in A Newborn

What is it about?

Escobar syndrome is a rare autosomal recessive disorder which is also called “multiple pterygium syndrome.” 1 Escobar syndrome is the name given to the non-lethal type of multiple pterygium syndrome. The most distinguishing characteristic features of this syndrome are congenital arthrogryposis, pterygia and spine deformities

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Why is it important?

Escobar syndrome is an example of a devastating dysmorphology due to a transient neuromuscular end-plate disturbance.

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