Escobar Syndrome – A Case Report in A Newborn

Escobar syndrome is a rare autosomal recessive
disorder which is also called “multiple pterygium
syndrome.” Multiple pterygium syndrome is manifested
by two types – lethal and the non-lethal type. The
more severe presentation, the lethal multiple pterygium
syndrome comprises intrauterine growth retardation,
multiple pterygia of the neck, elbows and knees,
arthrogryposis and internal anomalies including fetal
hydrops with cystic hygroma, microcephaly, cerebellar
and pontine hypoplasia, cardiac and lung hypoplasia,
intestinal malrotation, obstructive uropathy and
cryptorchidism.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.2

 

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