Pterygium Popliteal Syndrome Concerning a Case in the Pediatric Surgery Department of the Donka National Hospital (Conakry CHU)

Mamadou Alpha Touré

doi:10.4236/ojped.2022.121017

Abstract

Introduction: Popliteal pterygium syndrome is a rare birth defect, combining craniofacial, genitourinary and musculoskeletal abnormalities. It is an autosomal dominant disease caused by a mutation in the IRF6 gene. We report in this observation the 1st Guinean case corrected by the surgical method as well as a review of the literature for a diagnostic and therapeutic approach. Patient and observation: We present the case of a 7-day old male newborn weighing 2700 g who was received for bilateral cleft lip and palate, lower lip fossa or sinuses, bilateral popliteal pterygium, and triangular skin fold above the hallux. The patient underwent several surgical procedures aimed at correcting these abnormalities. The correction of the pterygium of the lower limbs was ensured by excision of the fibrous band, the tenoplasty in z of the calcaneal tendon on the right side and the skin plasty in z in series then immobilized by plaster splints. The immediate postoperative follow-up was straightforward. Conclusion: Popliteal pterygium syndrome is a rare congenital malformation, the diagnosis is primarily clinical. Early soft tissue lengthening surgery and serial z-skin plasty provide better correction of the knee pterygium. Correct correction of facial abnormalities gives the child a better appearance. The management of this syndrome is multidisciplinary.

Highlights

Popliteal pterygium syndrome is a rare birth defect, combining craniofacial, genitourinary and musculoskeletal abnormalities. It is an autosomal dominant disease caused by a mutation in the IRF6 gene. We report in this observation the 1st Guinean case corrected by the surgical method as well as a review of the literature for a diagnostic and therapeutic approach
Patient and observation: We present the case of a 7-day old male newborn weighing 2700 g who was received for bilateral cleft lip and palate, lower lip fossa or sinuses, bilateral popliteal pterygium, and triangular skin fold above the hallux
The correction of the pterygium of the lower limbs was ensured by excision of the fibrous band, the tenoplasty in z of the calcaneal tendon on the right side and the skin plasty in z in series immobilized by plaster splints

Summary

Introduction

Popliteal pterygium syndrome (PPS) is a congenital malformation combining craniofacial, musculoskeletal and genitourinary abnormalities [1] [2]. This rare anomaly was first described by Trélat in 1869, but the current designation was made by Grolin et al in 1969 [2] [3] [4]. Its incidence is approximately 1 in 300,000 live births [1] [3] [5] It is an autosomal dominant genetic disease with variable clinical expression [3] [5] [6] [7]. We report here the description of the first case in Guinea in a newborn corrected by the surgical method as well as a review of the literature for a diagnostic and therapeutic approach

Patient and Observation

Findings

Discussion

Conclusions