Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome.
Verstraeten
Elke
E
Center for Medical Genetics Departments of Pediatric Cardiology Cardiology Reumatology Center for Special Care in Dentistry, Ghent University Hospital, Ghent, Belgium.
Symoens
Sofie
S
Renard
Marjolijn
M
Callewaert
Bert
B
Vandekerckhove
Kristof
K
De Backer
Julie
J
Malfait
Fransiska
F
Marks
Luc
L
Coucke
Paul
P
De Paepe
Anne
A
Loeys
Bart
B
D000015:Abnormalities, Multiple / Q000473:pathology*; D001011:Aorta / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000150:complications*; D004108:Dilatation, Pathologic / Q000150:complications*; D005260:Female; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D007223:Infant; D007593:Joint Instability / Q000150:complications*; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D012868:Skin Abnormalities / Q000150:complications*; D013577:Syndrome