TY - JOUR
T1 - Bartsocas-Papas syndrome
T2 - The first case report of severe autosomal recessive form from Indonesia
AU - Josh, Fonny
AU - Soekamto, Tomie Hermawan
AU - Marzoeki, Djohansjah
AU - Faruk, Muhammad
N1 - Publisher Copyright:
© 2021 The Author(s)
PY - 2021/2
Y1 - 2021/2
N2 - Introduction: Bartsocas-Papas syndrome (BPS) is an autosomal recessive form of Popliteal Pterygium syndrome (PPS). It is a very rare disease characterized by congenital craniofacial anomalies, popliteal webbing, and genitourinary and musculoskeletal anomalies. Almost all of the cases were reported in dead intrauterine pregnancies. Presentation of case: We present a 10-month-old boy with bilateral complete cleft lip and palate, abnormal scalp hair, an absence of both upper eyelids, choanal atresia, syndactyly of the third and fourth fingers of the right hand, agenesis fingers on the left hand, bilateral popliteal pterygia, bilateral talipes equinovarus, agenesis of the toes of both lower extremities, intercrural webbing, an absence of testis, and scrotal anomaly. Multistage surgical correction was performed for the multiple congenital malformations. Conclusion: We report the first case of BPS from Indonesia. Gradual management should be performed according to the patient's age and available facilities.
AB - Introduction: Bartsocas-Papas syndrome (BPS) is an autosomal recessive form of Popliteal Pterygium syndrome (PPS). It is a very rare disease characterized by congenital craniofacial anomalies, popliteal webbing, and genitourinary and musculoskeletal anomalies. Almost all of the cases were reported in dead intrauterine pregnancies. Presentation of case: We present a 10-month-old boy with bilateral complete cleft lip and palate, abnormal scalp hair, an absence of both upper eyelids, choanal atresia, syndactyly of the third and fourth fingers of the right hand, agenesis fingers on the left hand, bilateral popliteal pterygia, bilateral talipes equinovarus, agenesis of the toes of both lower extremities, intercrural webbing, an absence of testis, and scrotal anomaly. Multistage surgical correction was performed for the multiple congenital malformations. Conclusion: We report the first case of BPS from Indonesia. Gradual management should be performed according to the patient's age and available facilities.
KW - Autosomal recessive
KW - Bartsocas-Papas syndrome
KW - Case report
KW - Congenital syndrome
KW - Popliteal pterygium syndrome
UR - http://www.scopus.com/inward/record.url?scp=85100124242&partnerID=8YFLogxK
U2 - 10.1016/j.ijscr.2021.01.070
DO - 10.1016/j.ijscr.2021.01.070
M3 - Article
AN - SCOPUS:85100124242
SN - 2210-2612
VL - 79
SP - 436
EP - 439
JO - International Journal of Surgery Case Reports
JF - International Journal of Surgery Case Reports
ER -