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Pediatrics Genetic Approach to Pediatric Medicine 7b34e196

Short 4th metatarsal is seen in -

A
Patau syndrome
B
Richard Syndrome
C
Down's Syndrome
D
Turner Syndrome
High-Yield Explanation
Ans. is 'd' i.e., Turner Syndrome Turner syndromeo It is the most common cause of sex chromosomal abnormality in females. It is caused by monsomy of sex chromosome, i.e. there is complete or partial loss of one X chromosome in females (45 XO or 45 X) and only 45 chromosomes are there.o Clinical features in children are edema of dorsum of hands and feet, swelling of nape of neck (cystic hydroma), bilateral webbing of neck, and congenital heart diseases [most common bicuspid aortic valve followed by coarctation of aorta (2nd most common), AS, MVP.o Clinical features in adolescents are short stature, webbed neck, low posterior hair line, widely spaced nipples with broad chest, hypertelorism, epicanthus, slanted palpebral fissure, ptosis, micrognathia, cubitus valgus (increared carrying angle), sensorineural hearing loss, short fourth metacarpal, hypothyroidism, streak ovaries, and sexual infantilism.o Turner syndrome is the most important cause of primary amenorrhea. There may be glucose intolerance, obesity and insulin resistance.o Mental retardation is not seen.

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