Escobar Syndrome with Tetralogy of Fallot: A Case Report

Escobar syndrome, the nonlethal variant of multiple pterygium syndrome, is a rare autosomal recessive disorder characterized by multiple joint pterygia, congenital contractures, and craniofacial anomalies.It results from impaired fetal movement during embryogenesis due to defective neuromuscular transmission, most commonly caused by mutations in the CHRNG gene encoding the fetal gamma subunit of the acetylcholine receptor.We report a 14-year-old female patient born to first-degree consanguineous parents who presented at birth with low weight, generalized hypotonia, and transient cyanosis.Early development was marked by global psychomotor delay and growth retardation.At one year of age, cardiac evaluation revealed tetralogy of Fallot, which was surgically repaired at five years with favorable outcomes.During childhood, she developed progressive polyarthralgias affecting multiple joints, accompanied by progressive joint contractures involving the hands and feet with tightened skin texture.Physical examination demonstrated bilateral hand deformities with thickened skin, limited finger extension, multiple osteotendinous retractions, and mild craniofacial dysmorphism including ptosis and down-slanting palpebral fissures.Whole-exome sequencing performed at 14 years confirmed a homozygous pathogenic variant in CHRNG, establishing the diagnosis of Escobar syndrome.The patient received multidisciplinary care involving cardiology, rheumatology, orthopedics, and physiotherapy.This case highlights the phenotypic variability of Escobar syndrome, particularly the rare association with complex cardiac malformations, and emphasizes the importance of genetic testing and coordinated long-term management.Enhanced clinical awareness is crucial for early recognition, especially in consanguineous populations.