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LDS-Clinical Characteristics
LDS-Clinical Characteristics
Written by Administrator
Monday, 23 April 2007
Characteristic
Descriptions
NoPatients
Percentage
Hypertelorism
Abnormal spacing between organs especially the eyes
26
65.00%
Cleft Palate or abnormal uvula
Fissure in the roof of the mouth either in soft or hard palate.
27
67.50%
Aortic-root aneurysm
Localized abnormal dilation of aorta, due to congenital defect or weakness of the wall of aorta. Life threatening without surgical intervention.
29
72.50%
Aneurysm of other vessels
Localized abnormal Dilation of other blood vessels.
13
32.50%
Arterial tortusoity
To be filled in
11
27.50%
Early Craniosynostosis
Early Fusion of Cranial Bones
15
37.50%
Malar hypoplasis
Defective/abnormal development of Facial Bones
17
42.50%
Retrognathia
Reversal or regurgitation of blood flow.
15
37.50%
Blue sclerae
Bluish discoloration of the white portion of the eye.
10
25.00%
Ectopia lentis
Displacement of the Lens of the eye.
0
0.00%
Dolichostenomelia
To be filled in
4
10.00%
Arachnodactyly
Fingers and toes abnormally long, slender and curved. Spider like.
22
55.00%
Pectus deformity
Deformation of Chest. Sunken Chest
21
52.50%
Scoliosis
Lateral curvature of the spine. Usually consists of two curves the original curve and a compensatory curve in the opposite direction.
14
35.00%
Talipes equinovarus
Club Feet
15
37.50%
Camptodactyly
Permanent bending of fingers or toes.
10
25.00%
Joint laxity
Hyper mobility excessive looseness of joints.
18
45.00%
Cervical-spine instability
To be filled in
6
15.00%
Velvety skin
Skin has very smooth texture.
9
22.50%
Translucent skin
Blood vessels near surface easily seen.
9
22.50%
Please activate JavaScript in order to view the table.
Patent ductus arteriosus
Persistent communication between pulmonary artery and the aorta after birth.
10
25.00%
Atrial septal defect
Defect or hole in wall separating chambers of atrium.
5
12.50%
Developmental delay
To be filled in
3
7.50%
Data for the above chart obtained from the New England Journal of Medicine dated Aug 2006.
Last Updated ( Wednesday, 25 April 2007 )
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