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  • Cri du chat syndrome
    Cri du chat syndrome
      Cri du chat syndrome Also known as cat cry syndrome Deletion syndrome Incidence of 1 in 45000 livebirths 85% cases by de novo part...
  • TURNER SYNDROME
    TURNER SYNDROME
    What is the other name of Turner Syndrome? Ullrich-Turner syndrome  What is the m/c sex chromosome disorder in female? Turner syndrome and o...
  • HETEROTAXY SYNDROMES
    HETEROTAXY SYNDROMES
    What is situs solitus? In situs solitus the viscera are in their normal positions (stomach and spleen on the left, liver on the right), the ...

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hepatobiliary

Treatment of Wilson disease

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What is the aim of treatment of Wilson disease? Removal or copper deposited in…

hepatobiliary

WILSON DISEASE

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Aka Hepatolenticular degeneration  Autosomal Recessive inheritance  What is t…

VACTERL/VATER ASSOCIATION

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Why not syndrome and why association? VATER or VACTERL is not a syndrome as …

nephrology

Gitelman

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Autosomal Recessive condition  More common than Bartter syndrome  Mimics chron…

nephrology

Bartter Syndrome

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Autosomal Recessive disorder. Characterized by defect in the Na-K-Cl channel i…

neurology

Lissencephaly

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Also known as agyria Some 65% are associated with mutations in the LIS1 gene…

neurology

Moebius syndrome

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Congenital unilateral or bilateral paralysis of VII and VI nerve  Hypoplasia of…

congenital anomalies

NOONAN SYNDROME

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Introduction Autosomal Dominant condition  Ras-MAPK pathway Defect  Due to muta…

Androgen insensitivity syndrome

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What happens in AIS? Type of DSD - Disorder of sexual differentiation  Androgen…

Antibiotic

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Monobactams  Monobactams are a group of beta lactam antibiotics since it has t…

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