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Pediatrics: Case Files > Genetic Syndromes > Flashcards

Genetic Syndromes Flashcards

1
Q

Achondroplasia

A
  • Most Common cause of Dwarfism
  • A/w Advanced Paternal Age
  • AD
  • FGFR3 - Fibroblast Growth Factor Receptor 3
    • Chromosome 4
    • Chondroblast Cartilage production
    • Defective Endochondrial Ossification of Long bones
  • Big Head - Short Extremities
    • Rhizomelic Shortening
  • Lumbar Lordosis
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2
Q

Pierre-Robin Sequence

A
  • Micrognathic Jaw
  • Cleft Palate
  • Normal Tongue size
  • 35% –> Stickler Syndrome
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3
Q

Prader-Willi

A
  • Chromosome 15 (PAPA)
  • Uniparental disomy (UPD) or Imprinting
  • Failure To Thrive as Inflant (Floppy Baby)
  • Obese as Child
  • Small Hands
  • Hypogonadism
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4
Q

Angelman’s

A
  • Chromosome 15 (Mom)
  • UPD vs Imprint vs AD
  • Intellectual Disability
  • “Happy Puppet”
  • Seizures
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5
Q

Hurler’s

A
  • AR
  • Coarse Facies
  • Corneal Clouding
  • Thick Skulls
  • “Gargoylism”
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6
Q

Hunter’s

A
  • XR
  • Coarce Facies
  • No Corneal Clouding
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7
Q

Turner

A
  • 45, X Mosaicism
  • Short Stature
  • Webbed neck
  • Short 4th / 5th metacarpal
  • Pedal edema in newborn females
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8
Q

Noonan Syndrome

A
  • AD
  • PTPN11 deletion
  • Pectus Excavatum
  • Webbed Neck
  • Low-set Ears
  • Pulmonic Stenosis
  • Male
  • Developmental delay
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9
Q

William’s

A
  • AD
  • Elfin Facies
  • Wide-spaced teeth
  • Upturned nose
  • Supravalvular Aortic Stenosis
  • Hypercalcemia in Infancy
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10
Q

Ehlers-Danlos

A
  • AD
  • Hypermobile joints
  • Skin stretches
  • Berry aneurysms
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11
Q

Fragile X

A
  • XR
  • CGG repeats
  • # 1 inherited form of MR
  • Macrotestis
  • Large Ears
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12
Q

Sturge-Weber

A
  • Port-wine Stain
  • Seizures
  • Glaucoma
  • Hemiplegia
  • Developmental Delay
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13
Q

Apert’s

A
  • AD
  • Stocking-glove deformity
  • Carniosynostosis
  • Syndactyly
  • MR
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14
Q

Crouzon’s

A
  • Craniofacial dysostosis
  • Proptosis
  • Beak nose
  • NO Syndactyly
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15
Q

CHARGE

A
  • C - Coloboma
  • H - Heart Disease
  • A - Atresia choanae
  • R - Retarded Growth and Development
  • G - GU abnormalities
  • E - Ear Anomalies
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16
Q

VACTERR-L

A
  • V - Vertebral Defects
  • A - Anal atresia
  • C - Cardiac defects
  • TE - TE Fistula
  • R - Radial Hypoplasia
  • R - Renal abnormalities
  • L - Limb abnormalities
17
Q

Holt Oram

A
  • ASD
  • Upper Limb defects
  • Three-jointed thumb
18
Q

McCune-Albright

A
  • Cafe au lait spots
  • Fibrous Dysplasia
  • Precocious puberty
19
Q

Treacher Collins

A
  • AD
  • Conductive Hearing Loss
  • Small Jaw
  • Lower Eyelid Abnormalities
  • Normal IQ
20
Q

Patau - Trisomy 13

A
  • Cutis aplasia
  • Cleft Lip / Cleft Palate
  • Cystic Kidney’s
  • Low Ears
  • Holoproscencephaly
  • Polydactyly
21
Q

Edward’s - Trisomy 18

A
  • Clenched Fist
  • Rocker Bottom Feet
  • Horshoe Kidney
  • Low Ears
  • Hypoplastic nails
  • Short Sternum
22
Q

Down - Trisomy 21

A
  • Non-dysjuntion vs. Translocation
  • Leukemia (ALL, AML M7) + Alzheimer
  • Duodenal Atresia
  • AV canal
  • Atlantoaxial Instability
  • Brushfield Spots
  • Upslanting palperbral fissures
23
Q

Cri-du-chat

A
  • 5p -
  • Cat-like cry
24
Q

Rett Syndrome

A
  • XD
  • MECP2
  • Developmental Regression
  • Wringing Hands
  • Autistic-like
25
Q

Lesch Nyhan Syndrome

A
  • XR
  • HGPRT
  • Mental Retardation
  • Elevated Uric Acid –> Gout
  • Self Mutilaion
26
Q

Aicardi

A
  • Macrocephaly
  • Seizures (Infantile Spasms)
  • Ocular Abnormalities
  • Absent Corpus Callosum
27
Q

DiGeorge (VCF)

A
  • 22q11.2 deletion
  • CATCH
    • C - Cardiac Abn. (ToF)
    • A - Abnormal Facies
    • T - Thymus aplasia
    • H - Hypocalcemia
  • Immunodeficiency
  • Interrupted Aortic Arch
  • 3/4th Pharyngeal Pouch
28
Q

Klinefelter’s

A
  • XXY
  • Infertile
  • Hypogonadism
  • Socially Awkward
  • Normal IQ
  • Gynecomastia
29
Q

Rubinstein-Taybi

A
  • AD
  • CREBBP
  • Broad Thumb
  • Cryptochidism
  • Hypospadias
30
Q

Russel-Silver

A
  • UPD 7
  • Triangle Face
  • Short Stature
  • Clinodactyly
  • Failure to Thrive
31
Q

Homocystinuria

A
  • AR
  • Marfanoid Habitus
  • Dislocated lens (inferior)
  • Skeletal Abnormalities
  • Decreased IQ
  • Coagulation def. / Strokes
  • Treat w/ B6
32
Q

Marfan’s

A
  • AD (Fibrillin)
  • Dislocated Lens (superior)
  • AR (dilatation)
  • MVP
  • MR
  • Tall
  • Pneumothoracies
  • Arachnodactyly
33
Q

Menkes Kinky Hair

A
  • Low Serum Copper
  • Low Serum Ceruloplasmin
  • High Tissue Copper
34
Q

Wilson’s

A
  • Copper Deposits
    • -Liver, Basal Ganglia
  • Kayser-Fleischer Rings
  • Low Serum Ceruloplasmin
  • Liver Bx - Diagnostic

Pediatrics: Case Files (16 decks)

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