Spontaneous familial pneumothorax with Marfan syndrome ; report of three cases

Abstract

The first patient, an 8-year-old female, was admitted with the diagnosis of right pneumothorax. She had the obvious skeletal and cardiovascular characteristics of Marfan syndrome. Her family history revealed that her father had had surgery for dissection of the thoracic aorta and had skeletal malformations. The second patient, a 17-year-old female, was the older sister of the first, and the third patient, a 15-year-old male, was her older brother. They were admitted with left pneumothorax, and they had the same skeletal and cardiovascular manifestations as the first case.
In all three, the lenses were normal, but a diagnosis of Marfan syndrome was established on the basis of their characteristic skeletal and cardiovascular manifestations and family historyHLA typing showed the A2-BW61 halotype