Marfan syndrome: A case report

Abstract

Marfan syndrome (MS) is a disorder of the connective tissues characterized by various phenotypical and genetic manifestations. We present this case to show its rarity and to highlight the need of early diagnosis to avert the numerous complications that follow it. A 7-year-old male, who presented with an abnormal body physique that was noticed at age 2 months, poor vision that was noticed 5 years ago, recurrent chest pain that started 3 years ago, and recurrent easy tiredness that started 3 years ago. He developed poor vision 2 years later. Examination revealed an acutely ill-looking child with dyspnea, grade 4 apical positive surgical margins (PSM), grade 2 diastolic murmur (at the aortic area), multiple skeletal abnormalities with lens subluxation and iridodonesis. Diagnosis of MS was made and he was comanaged with ophthalmologists and orthopedic surgeons.