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What is The child presents to you with learning disabilities. On examination, horseshoe kidney&;s and streak gonads are noted. What is your diagnosis? and explain in detail?
The child which shows characteristic webbed neck, learning disabilities, horseshoe kidneys, and streak gonads is diagnosed with Turner&;s syndrome. Turner&;s syndrome: Karyotype, 45; XO phenotypically females Chromosomal abnormality X) is present in 60% individuals, mosaic pattern in 40%. Impoant features associated with Turner&;s syndrome: Sho stature, Sho fouh metacarpal, Sensineural hearing loss, Shield chest Amenorrhea (primary), infeility Barr body absent Cardiac defects, Cubitus valgus, Congenital lymphedema Learning disabilities Ovaries underdeveloped(streak ovaries), Gonadoblastoma (increased risk if Y chromosome material is present) Webbed neck Nipples widely spaced Horseshoe kidneys Ref: Nelson textbook of pediatrics 21st edition Pgno: 669,3003