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External Markers of Congenital Heart Disease

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 External markers of congenital heart disease


1. EXTERNAL MARKERS OF CONGENITAL HEART DISEASE DOWN’s SYNDROME Short stature Mongoloid facies Brachydactyly Atlanto axial instability CVS - ASD ,VSD,PDA
ELLIS VAN CREVELD SYNDROME Short limbs ,Polydactyly Dysplastic nails, Genu valgum Lip tie CVS - Single atrium, ASD KEARNS SAYRE SYNDROME Ptosis
Ophtalmoplegia Pigmentary retinopathy CVS - AV block CHARGE SYNDROME Coloboma Genital hypoplasia Low set ears CVS - TOF TURNER’s SYNDROME Short stature,
Webbed neck Low hair line, Low set ears Broad chest with widely spaced nipples, Deafness Pigmented naevi CVS - Coarctationn of aorta - Bicuspid aortic valve HOLT
ORAM SYMDROME Radial abnormalities of fore arm and hand CVS - ASD ( Ostium Secundum ) - VSD LEOPARD SYNDROME Broad facies, Hypertelorism Growth
retardation Genital and rib anomaly CVS - Pulmonary stenosis - AV blocks DIGEORGE SYNDROME Cle! palate Abnormal facies CVS - TOF - DORV NOONAN SYNDROME
(MALE TURNER) Short stature Webbed neck Low hair line Hypertelorism, Ptosis Pectus excavatum, Cubitus valgus CVS - Dyplastic pulmonary stenosis LAURENCE MOON
BIEDL SYNDROME Obesity Polydactyly, Syndactyly Retinitis pigmentosa CVS - Variable congenital heart disease CORNELIA DELANGES SYNDROME Short stature Bushy
eyebrows Slanting eyes, Low set ears Broad flat nose CVS - VSD, PDA, ASD KLIPPEL FEIL SYNDROME Facial asymmetry Short webbed neck Low hair line, Small jaw Cle!
palate Torticollis, Scoliosis CVS - VSD KLINE FELTER’s SYNDROME Tall stature Enuchoid habitus Gynaecomastia, Small testis CVS - ASD WILLIAMS SYNDROME Elfin facies
Broad flat nose, Peg shaped teeth CVS - Supra valvular AS - Multiple peripheral PS RUBINSTEIN TAYBI SYNDROME Slanting palpebral fissures Thin beaked nose Low set
ears, Short stature CVS - VSD RUBELLA SYNDROME Cataract Retinopathy Deafness CVS - Pulmonary artery stenosis - PDA,VSD, TOF Reference : BRAUNWALD TEXT BOOK
OF CARDIAC DISEASES Dr. Cherian Thampy, 2nd year PG email: cherianthampy@gmail.com

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