AIM: To describe the clinical spectrum of anomalies of a new type of @entity4243 in 32 @entity1 from a large inter-related extended family in Qatar. METHODS: Among the 32 @entity1 (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 @entity5085 , flat saggy cheeks, elongated faces and @entity4239 . The combination of an elongated aortic arch and tortuous brachiocephalic arteries was seen in 30 @entity1 (93.8%), @entity439 of the ascending aorta in 3 @entity1 (9.4%), bifid pulmonary artery in 27 @entity1 (84.4%) and multiple severe @entity1897 of the right and/or left pulmonary artery in 7 @entity1 (21.9%). A prominent aortic knuckle was observed on the chest roentgenograms of 30 @entity1 (93.8%); @entity169 in 11 @entity1 (34%), @entity2914 in 7 @entity1 (21.9%); and laryngo- @entity825 in 2 @entity1 (6.3%). Generalized @entity2421 was found in 15 neonates (46.9%). Parental consanguinity involved in all the @entity1 was traced to a common ancestor from a large Bedouin tribe in Qatar. These @entity1 are at risk for potentially catastrophic @entity397 . Linkage to the major loci involved in @entity4243 and other connective tissue disorders, such as @entity15616 , @entity439 , and @entity6926 , was excluded by using specific DNA markers, confirming the uniqueness of this disorder. CONCLUSION: The study describes a large cohort of @entity1 from the same closely related family, sharing peculiar dysmorphisim and consistent radiological and echocardiographic features different from known types of @entity4243 . As known loci involved in @entity4243 and other connective tissue disorders were excluded by specific DNA markers, this appears to be a new type of @entity4243 or even a new syndrome.

A new type of XXXX associated with tortuous systemic arteries in a large kindred from Qatar.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity825 :: ('MESH:D055090', 'Disease') :: ['tracheomalacia'] @entity5085 :: ('MESH:D057165', 'Disease') :: ['epicanthic folds'] @entity4239 :: ('MESH:D008844', 'Disease') :: ['micrognathia'] @entity4243 :: ('MESH:D004535', 'Disease') :: ['Ehlers-Danlos syndrome'] @entity1897 :: ('MESH:D010523', 'Disease') :: ['peripheral stenosis'] @entity2914 :: ('MESH:D065630', 'Disease') :: ['diaphragmatic hernia and/or hiatus hernia'] @entity439 :: ('MESH:D000783', 'Disease') :: ['Familial Aneurysm', 'aneurysm'] @entity2421 :: ('MESH:D009123', 'Disease') :: ['muscle hypotonia'] @entity397 :: ('MESH:D012421', 'Disease') :: ['arterial rupture'] @entity15616 :: ('MESH:D003483', 'Disease') :: ['Cutis Laxa'] @entity169 :: ('MESH:D006552', 'Disease') :: ['inguinal hernia'] @entity6926 :: ('MESH:D010013', 'Disease') :: ['Osteogenesis imperfecta']
@entity4243 :: (MESH:D004535,Disease) :: ['Ehlers-Danlos syndrome']
