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Pediatrics Genetic and genetic disorders 68e07ab4

Which one of the following is not a feature of Turner&;s syndrome

A
Sho stature
B
Mental retardation
C
Coarctation of aoa
D
Lymphedema
High-Yield Explanation
Key clinical features of Turner syndrome are a lack of breast development or amenorrhea, with elevated follicle-stimulating hormone levels by 14 years of age; and infeility in women. Other characteristics of Turner syndrome include sho stature, a webbed neck, a low posterior hairline, misshapen or rotated ears, a narrow palate with crowded teeth, a broad chest with widely spaced nipples, cubitus valgus, hyperconvex nails, multipigmented nevi, pubeal delay, and cardiac malformation. <img src=" /> Figure 1. A 12-year-old girl with Turner syndrome. Note the subtle, distinctive facial features including prominent, posteriorly rotated auricles with looped helices and attenuated tragi; infraorbital skin creases; and mildly foreshoened mandible. One third of patients with Turner syndrome have a cardiac malformation; 75 percent of these patients have coarctation of aoa or a bicuspid aoic valve. Progressive aoic root dilatation or dissection can also occur, paicularly in patients with a bicuspid valve, coarctation, or untreated hypeension.Patients with Turner syndrome often have an atherogenic cardiovascular risk factor profile. Other potential complications of Turner syndrome include strabismus, sensorineural hearing loss, recurrent otitis media, ohodontic anomalies, renal malformation (e.g., horseshoe kidney, duplicated or cleft renal pelvis), autoimmune thyroiditis, celiac disease, congenital hip dysplasia, and scoliosis. Girls with Turner syndrome typically have normal intelligence. Reference: GHAI Essential pediatrics, 8th edition

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