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01.12.2014 | Case report | Ausgabe 1/2014 Open Access

Journal of Medical Case Reports 1/2014

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

Zeitschrift:
Journal of Medical Case Reports > Ausgabe 1/2014
Autoren:
Ilham Ratbi, Nawfal Fejjal, Marie Legendre, Nathalie Collot, Serge Amselem, Abdelaziz Sefiani
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1752-1947-8-471) contains supplementary material, which is available to authorized users.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

IR carried out the clinical examination of the patient and participated in the redaction of the manuscript. NF contributed to the clinical diagnosis and carried out the management of the patient. ML validated the molecular analysis and helped in the redaction of the manuscript. NC performed the molecular analysis. AS contributed to the clinical diagnosis and performed the genetic counseling. SA helped in the validation of the molecular analysis and corrected the manuscript. All authors read and approved the final manuscript.

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.

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Zusatzmaterial
Authors’ original file for figure 1
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Authors’ original file for figure 2
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Authors’ original file for figure 3
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Authors’ original file for figure 4
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Literatur
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