Genetic and Metabolic ds

Card Set Information

Author:
Niksladha
ID:
219453
Filename:
Genetic and Metabolic ds
Updated:
2013-05-13 17:35:26
Tags:
pediatrics bhatia
Folders:

Description:
Bhatia
Show Answers:

Home > Flashcards > Print Preview

The flashcards below were created by user Niksladha on FreezingBlue Flashcards. What would you like to do?


  1. Autosomal Dominant
    DOMINANT VHHH

    • D- Dystrophy Myotonia
    • O- Osteogenesis imperfecta
    • M- Marfan syndrome
    • I- Intermittent porphyria
    • N- Newman syndrome
    • A- Achandroplasia
    •     APKD (Adult Polycystic Kidney Ds)
    • N- Neurofibrosis
    • T- Tuberous sclerosis

    • V- Von willbrand ds
    • H- Huntington chorea
    • H- Hyper cholestremia
    • H- Hereditory spherocytosis
  2. Autosomal recessive
    ABCDEFGH SPW

    • A- Albinism
    • B- β Thelessemia
    • C- Cystic fibrosis
    • D- Deafness
    • E- Emphysema (α1 anti-trypsin def)
    • F- Fedrick's Atresia
    • G- Goucher's ds
    • H- Homocysteinuria

    • S- Sickle cell anemia
    • P- Phenylketonuria
    • W- Willson's ds
  3. X linked Dominant
    5

    • Hypophosphitemic rickets
    • Rete's syndrome
    • Goltz syndrome (focal dermal hypoplasia)
    • Acardi syndrome
    • Incontinentia pigmenti
  4. X linked recessive
    • D- Diabetic insupidus
    • D- Duchin muscular dystrophy

    • C- Color blindness
    • C- Chronic granulomatous ds

    • F- Fregile X syndrome
    • F- Fabory ds

    • 2 blood disorders
    • Haemophilia
    • G-6-PD

    • 2 Syndromes
    • Lesch Nyhan Syndrome
    • WAS (wiskott Aldrich Synd)

What would you like to do?

Home > Flashcards > Print Preview