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Trisomy 21 and ARM

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First one with correct answer with justification win.

 

[size=20px]You are asked to see a 38-week gestation, 2800-gram birth weight newborn boy with no visible anus. He is in no distress but his overall muscular tone is decreased and he has the typical facial features and palmar creases of trisomy 21. The abdomen is mildly distended, soft and nontender. You confirm that there is no anal opening. In this boy with trisomy 21 the most likely type of anorectal malformation is an imperforate anus with

 

A a perineal fistula.

 

B a rectal to bladder neck fistula.

 

C a recto bulbar urethral fistula.

 

D a recto prostatic urethral fistula.

 

E no fistula.[/size]

E

correct

The majority (80 to 95%) of infants with trisomy 21 and an anorectal malformation have imperforate anus without fistula to the urinary tract or perineum. also an additional consideration in patients with anorectal malformations and trisomy 21 is the risk of associated Hirschsprung disease in these patients that mandates that a rectal biopsy should by performed at the time of anoplasty.

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