Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report

Ilham Ratbi,Serge Amselem,Nawfal Fejjal,Marie Legendre,Abdelaziz Sefiani,Nathalie Collot

doi:10.1186/1752-1947-8-471

Abstract

IntroductionPopliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is a rare autosomal dominant disorder due to a mutation of the IRF6 gene on 1q32.2.Case presentationA one-month-old Moroccan baby boy was diagnosed with typical features of popliteal pterygium syndrome and carried the c.250C>T; p.Arg84Cys mutation of the IRF6 gene.ConclusionsWe report on the first description of a Moroccan popliteal pterygium syndrome patient. This diagnosis allowed us to provide an appropriate course of management to the patient and offer genetic counseling to his family.

Highlights

Popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies
We report on the first description of a Moroccan patient with popliteal pterygium syndrome carrying a missense mutation of the hotspot arginine 84
Case presentation A one-month-old Moroccan baby boy was referred to our institute for a medical genetic consultation with a chief complaint of malformations diagnosed as popliteal pterygium syndrome

Summary

Introduction

Popliteal pterygium syndrome (PPS, OMIM:19500) is a rare autosomal dominant malformative disorder, characterized by orofacial, cutaneous, musculoskeletal, and genital anomalies [1]. Case presentation A one-month-old Moroccan baby boy was referred to our institute for a medical genetic consultation with a chief complaint of malformations diagnosed as popliteal pterygium syndrome He was the fourth liveborn child of a healthy nonconsanguineous couple, aged 35 for the mother and 49 for the father, with no particular familial history. Physical examination, our patient had a bilateral cleft lip and palate with two large pits on the lower lip and oral synechias that did not restrict feeding (Figure 1). He presented several achromic spots of different shapes and sizes on his face. Our patient was scheduled for reconstructive surgery of his cleft lip and palate, oral synechiae and popliteal pterygium

Discussion

Conclusions