Escobar syndrome: non-lethal multiple pterygium syndrome case report

Abstract

Escobar syndrome is a rare disorder that is a nonlethal variant of multiple pterygium syndromes. It is usually diagnosed in utero on fetal ultrasound and then confirmed in the neonatal period. Escobar syndrome is characterized by arthrogryposis multiplex congenita, excessive pterygia, congenital contractures, and abnormal facial appearance. It manifests as an autosomal recessive condition, and is caused by homozygous or compound heterozygous mutation of the CHRNG gene. Other variable features include growth retardation, congenital respiratory distress, ptosis, low set ears, cleft palate, and cryptorchidism. In this article, a newborn patient with Escobar syndrome was presented to share difficulties in the neonatal period, and the clinical features were discussed in the light of the literature. [Med-Science 2017; 6(2.000): 357-60]

Keywords

• Arthrogryposis
• Escobar
• multiple pterygium syndrome
• newborn