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

Journal of Medical Case Reports

Abdelaziz Sefiani³  Serge Amselem¹  Nathalie Collot¹  Marie Legendre¹  Nawfal Fejjal²  Ilham Ratbi³ 

[1] U.F. de Génétique moléculaire, Hôpital Trousseau, APHP, 26, Avenue du Docteur Arnold-Netter, 75012 Paris, France;Service de chirurgie plastique pédiatrique, Hôpital des Enfants, Boulevard Ibn Rochd, 10100 Rabat, Morocco;Département de Génétique médicale, Institut National d’Hygiène, 27, Avenue Ibn Batouta, 11400Rabat, Morocco

关键词: IRF6 gene;    Autosomal dominant;    Popliteal pterygium syndrome;   

Others  :  1180826
DOI  :  10.1186/1752-1947-8-471

 received in 2014-09-05, accepted in 2014-11-30,  发布年份 2014

【 摘 要 】

Introduction

Popliteal 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 presentation

A 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.

Conclusions

We 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.

【 授权许可】

   
2014 Ratbi et al.; licensee BioMed Central.

【 图 表 】

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