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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%

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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