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Case Study 32

Discussion in 'Case Studies' started by aida mak, Aug 29, 2015.

  1. aida mak

    aida mak Bronze Member

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    You are the pediatrician in charge of monitoring a neonate. He has a small head and ambiguous genitalia. You suspect a genetic disorder in which metabolism of 7-dehydrocholesterol to cholesterol is failed.
    What is the most likely diagnosis?
    A- Down syndrome
    B- WAGR syndrome
    C- Patau syndrome
    D- Smith-Lemli-Opitz syndrome
    E- Cystic fibrosis
    Answer: http://medical-usmle.com/?p=7759
     

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