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Keywords:

  • Bifid pulmonary artery;
  • DNA markers;
  • Ehlers-Danlos syndrome;
  • elongated aortic arch;
  • peculiar facial features

Aim: To describe the clinical spectrum of anomalies of a new type of Ehlers-Danlos syndrome in 32 patients from a large inter-related extended family in Qatar. Methods: Among the 32 patients (from 22 families), there were 6 affected pairs of siblings and 2 families with 3 affected siblings. The male to female ratio was 2:1, ages ranging from birth to 18 y (mean 7.4 y). Results: Anomalies included a variable degree of skin hyperextensibility, hypermobility of small and large joints, and tortuous systemic arteries. Peculiar facial features included epicanthic folds, flat saggy cheeks, elongated faces and micrognathia. The combination of an elongated aortic arch and tortuous brachiocephalic arteries was seen in 30 patients (93.8%), aneurysm of the ascending aorta in 3 patients (9.4%), bifid pulmonary artery in 27 patients (84.4%) and multiple severe peripheral stenosis of the right and/or left pulmonary artery in 7 patients (21.9%). A prominent aortic knuckle was observed on the chest roentgenograms of 30 patients (93.8%); inguinal hernia in 11 patients (34%), diaphragmatic hernia and/or hiatus hernia in 7 patients (21.9%); and laryngo-tracheomalacia in 2 patients (6.3%). Generalized muscle hypotonia was found in 15 neonates (46.9%). Parental consanguinity involved in all the patients was traced to a common ancestor from a large Bedouin tribe in Qatar. These patients are at risk for potentially catastrophic arterial rupture. Linkage to the major loci involved in Ehlers-Danlos syndrome and other connective tissue disorders, such as Cutis Laxa, Familial Aneurysm, and Osteogenesis imperfecta, was excluded by using specific DNA markers, confirming the uniqueness of this disorder.

Conclusion: The study describes a large cohort of patients from the same closely related family, sharing peculiar dysmorphisim and consistent radiological and echocardiographic features different from known types of Ehlers-Danlos syndrome. As known loci involved in Ehlers-Danlos syndrome and other connective tissue disorders were excluded by specific DNA markers, this appears to be a new type of Ehlers-Danlos syndrome or even a new syndrome.