Webbing of neck, increased carrying angle, low posterior hair line and sho fouh metacarpal are characteristics of:
Correct Answer: Turner syndrome
Description: Answer is B (Turner's Syndrome) : Noonan syndrome presents with most features similar to Turner's Syndrome. Webbing of neck, increased carrying angle, low hair line are present in both Noonan's and Turner's Syndrome but sho fouh metacarpal is characteristic of Turner's Syndrome only. Term Noonan syndrome has been applied to males and females who present with phenotypic features of Turner's Syndrome but have a normal Karyotype (46X, Y or 46 XX) Turner's Syndrome Noonan's Syndrome * Defect in X chromosome * Autosomal dominant disorder * Karyotype is XO * Karyotype is normal (46 X, X or 46 X, Y) * Phenotypic females only Q (female sex only) * Phenotypic Males or females (seen in both sexes) Manifestations Manifestations * Sho stature * Sho stature * Webbed neck * Webbed neck * Low posterior hair line * Low posterior hair line * Characteristic facies - Hypeelorism - Epicanthus - Slanted palpebral fissures - Ptosis - Micrognathia - Ear abnormalities * Characteristic facies - Hypeelrism - Epicanthus - Slanted palpebral fissures - Ptosis - Micrognathia - Ear abnormalities * Cubitus valgus * Cubitus valgus * Borad chest with widely spaced nipples * Pectus carinatum / Pectus excavatum * Cardiac defect : - Most commonly coarctation of aoa and bicuspid aoic valve * Cardiac defect : - Most common cardiac defect is pulmonary valvular stenosis, Hyperophic cardiomyopathy, ASD * Sensorineural hearing loss * Sensorineural hearing loss * Sho fouh metacarpal ? * No mental retardation * Mental retardation present
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