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Kaplan Qbank USMLE



Author4 Posts
  #1

A newborn with syndactyly visits your clinic .What developmental defect will you think of (pathogenesis.).. ?

  #2

Poland syndrome: syndactyly occurs with absent pectoralis major

thalidomide administration during pregnancy

disrupted/incomplete limb bud differentiation -- does retinoic acid play a part in this?

___________________
Do not worry about your difficulties in mathematics. I can assure you mine are still greater. -- Albert Einstein

  #3

u r right in mentioning the diseases with syndactyly but i was trying to ask about specific process which is defective in such infant........and it was apoptosis

  #4

check this artical ...its good

Etiology •Unknown.

Pathogenesis •The condition is a developmental anomaly.

•The upper limb parts appear as an outgrowth of the trunk on days 15 to 25.

•Digits appear at days 41 to 43.

•These fully separate into fingers at days 52 to 53.

•It is presumed that the formation of digits is due to apoptosis or programmed cell death between the presumptive digits.

•The pathogenesis of the condition is not completely understood, but research focuses on the role of retinoids and the homeobox (HOX) genes in giving rise to this condition by altering the apoptotic events in the primitive limb.,

Epidemiology •Male:Female ratio is 1:1.

•Approximately 1 in 3,000 live births in the U.S. manifest syndactyly.

•The most common form involves fusion of the third and fourth digits of the hands.

•Other, more extensive defects may result in the entire hand appearing as a cup with no fingers.

•In some forms, fusion of toes, especially second and third, is an associated finding.

•In other forms, is associated with polydactlyly.

General Microscopic Description •There appears to be relatively little, if any, description of the specific histology of syndactyly.

Clinical Correlation •Usually autosomal dominant.

•The lesion is obviously manifest and detected at birth.







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