Fonny Josh1, Tomie Hermawan Soekamto2, Djohansjah Marzoeki3, Muhammad Faruk4. 1. Division of Plastic and Reconstructive Surgery, Department of Surgery, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia; Division of Plastic and Reconstructive Surgery, Department of Surgery, Dr Wahidin Sudirohusodo Hospital, Makassar, Indonesia. Electronic address: fonnyjosh2003@yahoo.com. 2. Department of Plastic and Reconstructive Surgery, Koja Hospital, Jakarta, Indonesia. Electronic address: tomherma@yahoo.com. 3. Department of Plastic and Reconstructive Surgery, School of Medicine, Airlangga University, Dr. Soetomo Hospital, Surabaya, Indonesia. Electronic address: djo.sjah@gmail.com. 4. Department of Surgery, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia. Electronic address: faroex8283@gmail.com.
Abstract
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.
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.