ISSN: 2640-2726
Authors: Fady B*, Samer B and Osama B
Popliteal Pterygium Syndrome is characterized by congenital malformations that affect the face, extremities and genitalia. Autosomal dominant inheritance with variable expressivity and incomplete penetrance is widely accepted. This disorder is very rare. The incidence is 1/300.000. Affects both gender at same rates. The features of the syndrome are highly variable and may show a wide range of expressivity; even within families. The minimum diagnostic criteria are three of the following: 1. Cleft lip/palate. 2. Popliteal Pterygium. 3. Paramedian lower lip pool. 4. Genital abnormalities. 5. Abnormalities in nails. The differential diagnosis is very important in sporadic cases and those with only mild expression. The overall prognosis of the Popliteal Pterygium Syndrome is good. The pathogenesis of the syndrome is only partially known. The analysis of chromosomes showed normal results, so at present there is no suggestion for a possible location of genes. The case presented below is a male 5 years old, from Caja Seca, Zulia State, Venezuela who is brought by the grandmother to the hospital Sor Juana Ines de La Cruz in the city of Mérida for presenting high respiratory infectious process, he is valuated and hospitalized to be managed by multidisciplinary assessment and for the respective surgical correction. The case reported has all the minimum criteria.
Keywords: Popliteal Pterygium; Autosomal Dominant Inheritance
