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

J Med Case Rep. 2014 Dec 29:8:471. doi: 10.1186/1752-1947-8-471.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Cleft Lip / diagnosis*
  • Cleft Palate / diagnosis*
  • Eye Abnormalities / diagnosis*
  • Fingers / abnormalities*
  • Humans
  • Infant
  • Knee Joint / abnormalities*
  • Lower Extremity Deformities, Congenital / diagnosis*
  • Male
  • Morocco
  • Physical Examination
  • Syndactyly / diagnosis*
  • Urogenital Abnormalities / diagnosis*

Supplementary concepts

  • Popliteal Pterygium Syndrome