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

ABSTRACT: 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.

SUBMITTER: Ratbi I

PROVIDER: S-EPMC4320515 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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

Ratbi Ilham I Fejjal Nawfal N Legendre Marie M Collot Nathalie N Amselem Serge S Sefiani Abdelaziz A

Journal of medical case reports 20141229

<h4>Introduction</h4>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.<h4>Case presentation</h4>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.<h4>Conclusions</h4>We report on the first description of a Moroccan popli ...[more]

PMID: 25547932

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