Bartsocas-Papas syndrome in a Pakistani family from Kuwait.
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.
Al-Sawan
Rima M Z
RM
Department of Pediatrics, Farwaniya Hospital, Kuwait.
Soni
Amrit L
AL
Al-Nakkas
Enaam M
EM
Gang
Raj Kumar
RK
D000015:Abnormalities, Multiple; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007730:Kuwait / Q000208:ethnology; D017880:Limb Deformities, Congenital; D008297:Male; D010154:Pakistan; D013577:Syndrome; D014564:Urogenital Abnormalities