Patient Overview : 54

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 51.9% 28/54
Female 48.1% 26/54
Neurology    
Behavioral problems 16.7% 3/18
Attention deficit hyperactivity disorder 11.1% 2/18
Autism 5.6% 1/18
Facial abnormalities    
Abnormality of the eye 25.6% 10/39
Hypertelorism 23.1% 9/39
Prominent epicanthal folds 2.6% 1/39
Proptosis 2.6% 1/39
Abnormality of the nose 4.3% 1/23
Depressed nasal bridge 4.3% 1/23
Wide nasal bridge 4.3% 1/23
Abnormality of the mouth 46.2% 18/39
Abnormality of the palate 25.6% 10/39
Broad uvula 10.3% 4/39
Abnormality of the uvula 2.6% 1/39
Bifid uvula 2.6% 1/39
High, narrow palate 2.6% 1/39
Premature loss of teeth 2.6% 1/39
Visual and hearing impairments    
Abnormal hearing 2.0% 1/49
Hearing impairment 2.0% 1/49
Abnormal vision 4.1% 2/49
Blurred vision 2.0% 1/49
Strabismus 2.0% 1/49
Heart    
Abnormality of the heart 86.5% 45/52
Aortic aneurysm 36.5% 19/52
Aneurysm 28.8% 15/52
Arterial tortuosity 28.8% 15/52
Abnormality of the mitral valve 26.9% 14/52
Aortic root dilatation 7.7% 4/52
Ascending aortic dilation 7.7% 4/52
Aortic dissection 5.8% 3/52
Abnormal heart morphology 3.8% 2/52
Aortic valve stenosis 3.8% 2/52
Ascending aortic dissection 3.8% 2/52
Descending aortic dissection 3.8% 2/52
Sinus of Valsalva aneurysm 3.8% 2/52
Thoracic aortic aneurysm 3.8% 2/52
Abdominal aortic aneurysm 1.9% 1/52
Abnormality of the systemic arterial tree 1.9% 1/52
Aortic regurgitation 1.9% 1/52
Atria septal defect 1.9% 1/52
Cardiomegaly 1.9% 1/52
Carotid artery aneurysm 1.9% 1/52
Coronary artery stenosis 1.9% 1/52
Ischemic stroke 1.9% 1/52
Left ventricular hypertrophy 1.9% 1/52
Mitral regurgitation 1.9% 1/52
Myocardial infarction 1.9% 1/52
Pericarditis 1.9% 1/52
Ventricular fibrillation 1.9% 1/52
Gastrointestinal    
Gastrointestinal abnormalities 2.1% 1/47
Gastroesophageal reflux 2.1% 1/47
Urogenital    
Abnormality of the urogenital system 14.6% 7/48
Cystocele 14.6% 7/48
Skeleton    
Skeletal abnormalities 93.0% 40/43
Intervertebral disc degeneration 53.5% 23/43
Osteoarthritis 51.2% 22/43
Scoliosis 34.9% 15/43
Abnormality of the sternum 9.3% 4/43
Pes planus 9.3% 4/43
Pectus excavatum 7.0% 3/43
Hip osteoarthritis 4.7% 2/43
Joint laxity 4.7% 2/43
Abnormality of the intervertebral disk 2.3% 1/43
Genu valgum 2.3% 1/43
Hernia 2.3% 1/43
Joint hypermobility 2.3% 1/43
Knee osteoarthritis 2.3% 1/43
Kyphosis 2.3% 1/43
Lumbar spinal canal stenosis 2.3% 1/43
Osteoarthritis of the elbow 2.3% 1/43
Thoracic scoliosis 2.3% 1/43
Valgus foot deformity 2.3% 1/43
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 59.6% 28/47
Varicose veins 29.8% 14/47
Soft skin 27.7% 13/47
Striae distensae 12.8% 6/47
Bruising susceptibility 4.3% 2/47
Dermal translucency 2.1% 1/47
Endocrine / Immunological / Metabolic    
Abnormality of the immune system 25.0% 2/8
Arthritis 12.5% 1/8
Rheumatoid arthritis 12.5% 1/8