Bartsocas-Papas syndrome in a Pakistani family from Kuwait.

Autor: Al-Sawan RM; Department of Pediatrics, Farwaniya Hospital, Kuwait., Soni AL, Al-Nakkas EM, Gang RK
Jazyk: angličtina
Zdroj: Indian pediatrics [Indian Pediatr] 2004 Jul; Vol. 41 (7), pp. 725-7.
Abstrakt: We report a rare case of Bartsocas Papas Syndrome, a lethal autosomal recessive type of Popliteal Pterigium syndrome, from a consaguineous Pakistani family who had typical anomalies of face, limbs and genitalia with additional peripheral pulmonary stenosis. Antenatal diagnosis and option for termination of pregnancy is advised.
Databáze: MEDLINE