Multiple pterygium syndrome (escobar syndrome).

ABSTRACT

Escobar (multiple pterygium) syndrome is a rare autosomal recessive disorder characterized by short stature, multiple pterygium, joint contractures, vertebral fusions and minor facial anomalies. There is extreme phenotypic variability. The etiologic and genetic basis of multiple congenital pterygium is very heterogenous. Mutidisciplinary approach includes primary care physician or pediatrician, orthopedist, physical therapist and plastic surgeon. We report a case of multiple pterygium syndrome most likely the first reported case in Thailand that still alive and have had successful operative treatment of the spine and left foot. This 5-year-old Thai girl with short stature, ptosis of both eyelids, antimongoloid slant of palpebral fissures, hypertelorism, micrognathia, flat facies with emotionless expression, pterygium at neck, axillae, antecubital, popliteal, thumbs in palms, talipes equinovarus deformity, scoliolordosis at thoracic spine was described. She went through successive operations plastic surgical correction of ptosis of both eyelids; anterior spinal fusion at thoracic spine; postero medical release at left foot with good result.