Síndrome de Escobar

Abstract

A case of multiple pterygium syndrome, also known as the Kscobar syndrome is described. This entity has an autosomal recessive way of inheritance with variable expression on the phenotype. It's more striking abnormalities arc mild growth deficiency; intellectual impairment; cranio -facial dysmorphism (low set ears, hyperthelorism, inner epicanthal folds, hight palate and micrognathia); pterygiae of neck, axillae, elbows, crural folds and knees; chriptorquidism and mild bone anomalies. Severe malnutrition and frecuent episodes of bronchopneumonia have been an obstacle for the integral managmcnt in our patient. (