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2.1) My Cards > 2.0 MTB Step 3 - Genetics/Dysmorphology > Flashcards

2.0 MTB Step 3 - Genetics/Dysmorphology Flashcards

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1
Q

DOWN SYNDROME

RISK ASSOCIATED W/ ADVANCED MATERNAL AGE

What are (7) Classic Features of Down Syndrome (Trisomy 21)?

A
  1. Upward slanting Palpebral Fissures
  2. Speckling of Iris (Brushfield Spots)
  3. Inner Epicanthal folds
  4. Small Stature
  5. Late Fontanel Closure
  6. Mental Retardation
  7. Hypoplasia of the Middle Phalanx of the 5th finger
  8. High Arched Plate
  9. Microcephaly
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2
Q

DOWN SYNDROME

RISK ASSOCIATED W/ ADVANCED MATERNAL AGE

What are (4) Diagnostic Workups and (1) Association in a patient with Down Syndrome (Trisomy 21)?

A

Diagnostic Exams:

  1. Hearing Exam
  2. Echocardiogram
    • Endocardial Cushion Defect
    • VSD
    • PDA
    • ASD
    • MVP
  3. Gastrointestinal Exam
    • TEF
    • Duodenal Atresia
  4. TSH
    • Hypothyroidism

Association:

  1. Advancing Age
    • High probability of developing ALL and Early-onset Alzheimer Disease.
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3
Q

EDWARDS SYNDROME

What are (7) Classic Features of Edwards Syndrome (Trisomy 18)?

A
  1. Low-set, Malformed ears
  2. Microcephaly
  3. Micrognathia
  4. Clenched hand (index over 3rd, 5th over 4th)
  5. Rocker-bottom feet and Hammar Toe
  6. Omphalocele
  7. Structural Heart Defect
    • VSD is Most Common
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4
Q

EDWARDS SYNDROME

What are (2) Diagnostic Workups and (1) Association in a patient with Edwards Syndrome (Trisomy 18) and what are the Disease Associations?

A

Diagnostic Exams:

  1. Echocardiogram
    • VSD
    • ASD
    • PDA
  2. Renal Ultrasound (US)
    • Polycystic Kidneys
    • Ectopic or Double Ureter

Association:

  1. Most patients do NOT Survive first year of life.
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5
Q

PATAU SYNDROME

What are (5) Classic Features of Patau Syndrome (Trisomy 13)?

A
  1. Defects of Midface, Eye, and Forebrain Development
  2. Holoprosencephaly
  3. Microcephaly
  4. Microphthalmia
  5. Cleft Lip/Palate
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6
Q

PATAU SYNDROME

What are (2) Diagnostic Workups and (1) Physical Finding in a patient with Patau Syndrome (Trisomy 13) and what are the Disease Associations?

A

Diagnostic Exams:

  1. Echocardiogram
    • VSD
    • PDA
    • ASD
  2. Renal Ultrasound (US)
    • Polycystic Kidneys

Physical Finding:

  1. Single Umbilical Artery
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7
Q

W.A.G.R. SYNDROME

ANIRIDIA-WILMS TUMOR ASSOCIATION

What are the (4) Disorders that make up WAGR Syndrome?

A
  1. W ilms Tumor
  2. A niridi
  3. G U Anomalies
  4. R etardation (mental)
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8
Q

W.A.G.R. SYNDROME

ANIRIDIA-WILMS TUMOR ASSOCIATION

What Diagnostic Workup should be done when you see an Infant with Aniridia (absent iris)?

A

Do a complete workup for WAGR Syndrome

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9
Q

KLINEFELTER SYNDROME (XXY)

1 : 500 males

What are (4) Classic Features of Klinefelter Syndrome (XXY)?

A
  1. Low IQ
  2. Behavioral Problems
  3. Slim with Long Limbs
  4. Gynecomastia
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10
Q

KLINEFELTER SYNDROME (XXY)

1 : 500 males

  1. What is (1) Diagnostic Workup for Klinefelter Syndrome (XXY) and what are you looking for?
  2. What is the Treatment for Klinefelter Syndrome (XXY)
A
  1. Testosterone levels
    • ​​Hypogonadism
    • Hypogenitalism
  2. Testosterone Replacement
    • At age 11 - 12
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11
Q

TURNER SYNDROME (XO)

SPORADIC; NO ASSOCIATIONS

What are (7) Classic Features of Turner Syndrome (XO)?

A
  1. Female of Small Stature
  2. Gonadal Dysgenesis
  3. Low IQ
  4. Congenital Lymphedema
  5. Webbed Neck (posterior)
  6. Broad Chest
  7. Wide-spaced Nipples
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12
Q

TURNER SYNDROME (XO)

SPORADIC; NO ASSOCIATIONS

What are (3) Diagnostic Workups for Turner Syndrome (XO) and what are you looking for?

A
  1. Renal Ultrasound (US)
    • Horseshoe Kidney
    • Double Renal Pelvis
  2. Cardiac Exam
    • Bicuspid Aortic Valve
    • Coarctation of the Aorta
  3. Thyroid Function
    • Primary Hypothyroidism
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13
Q

TURNER SYNDROME (XO)

SPORADIC; NO ASSOCIATIONS

What are (3) Medical Treatments you can give to a patient with Turner Syndrome (XO)?

A
  1. Estrogen
  2. Growth Hormone (GH)
  3. Anabolic Steroid Replacement
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14
Q

FRAGILE X SYNDROME

VARIABLE NUMBER OF REPEAT CGG

What are (4) Classic Features of Fragile X Syndrome?

A
  1. Macrocephaly in early childhood
  2. Large Ears
  3. Large Testes
  4. Mental Retardation

Fragile X is the most common cause of MR in boys

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15
Q

FRAGILE X SYNDROME

VARIABLE NUMBER OF REPEAT CGG

What is (1) Disease Association with Fragile X Syndrome?

A

Attention Deficit Hyperactivity Syndrome

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16
Q

BECKWITH-WIEDEMANN SYNDROME

IGF-2 DISRUPTED AT 11P15.5

What are (5) Classic Features of Beckwith-Wiedemann Syndrome?

A

Multiorgan Enlargement:

  1. Macrosomia
  2. Macroglossia
  3. Pancreatic Beta-cell Hyperplasia (Hypoglycemia)
  4. Large Kidneys
  5. Neonatal Polycythemia
17
Q

BECKWITH-WIEDEMANN SYNDROME

IGF-2 DISRUPTED AT 11P15.5

  1. What is (1) Disease Association with Beckwith-Wiedemann Syndrome?
  2. What Type of Screening Test should be performed in a patient with Beckwith-Wiedemann Syndrome?
A
  1. Increased Risk of Abdominal Tumors
  2. Obtain Ultrasounds and Serum AFP every 6 months through age 6 to look for Wilms Tumor and Hepatoblastoma.
18
Q

PRADER-WILLI SYNDROME

DELETION OF 15q11q13

What are (4) Classic Features of Prader-Willi Syndrome?

A
  1. Obesity
  2. Mental Retardation
  3. Binge Eating
  4. Small Genitalia
19
Q

PRADER-WILLI SYNDROME

DELETION OF 15q11q13

What is (1) Disease Association with Prader-Willi Syndrome?

A

Decreased Life Expectancy due to Morbid Obesity

20
Q

ANGELMAN SYNDROME (Happy Puppet)

DELETION OF 15q11q13

What are (5) Classic Features of Angelman Syndrome?

A
  1. Mental Retardation
  2. Inappropriate Laughter
  3. Absent Speech or < 6 words
  4. Ataxia and Jerky Arm Movements resembling a puppet gait
  5. Recurrent Seizures
21
Q

ANGELMAN SYNDROME (Happy Puppet)

DELETION OF 15q11q13

What is (1) Disease Association with Angelman Syndrome?

A

80% Develop

Epilepsy

22
Q

ROBIN SEQUENCE

PIERRE ROBIN

What are (2) Classic Features of Robin Sequence?

A
  1. Mandibular Hypoplasia
  2. Cleft Palate
23
Q

ROBIN SEQUENCE

PIERRE ROBIN

  1. What are (2) Disease Associations with Robin Sequence?
  2. What should be Monitored in an infant with Robin Sequence?
A
  1. Fetal Alcohol Syndrome and Edwards Syndrome
  2. Monitor Airway: Obstruction possible over the First 4 weeks of life.
24
Q

BASIC SCIENCE CORRELATE

What is Trisomy most commonly caused by?

A

Nondisjunction during Meiosis

25
**EHLERS-DANLOS SYNDROME (EDS)** What are (**6**) _Physical Manifestations_ of ***Ehlers-Danlos Syndrome*** (***EDS***)?
1. Extremely **Elastic, Smooth Skin** that is _Fragile_ and _Bruises easily_. 2. **Wide, Atrophic Scars** (flat or depressed scars) 3. **Joint Hypermobility** 4. **Molluscoid Pseudotumors** (calcified hematomas over pressure points such as the elbow) 5. **Spheroids** (fat-containing cysts on forearms and shins) 6. **Hypotonia** and **Delayed Motor Development**. * \*These result from a mutation in one of more than a dozen different genes. The diagnosis may be confirmed with genetic testing or a skin biopsy.\** * \*\*There is no known cure. Treatment is supportive and Palliative. Physical Therapy and Bracing may help strengthen muscles and support joints.\*\**
26
**OSTEOGENESIS IMPERFECTA (OI)** 1. What is ***Osteogenesis Imperfecta*** (***OI***)? 2. What are the (**5**) _Main Features_ of ***Osteogenesis Imperfecta*** (***OI***)?
1. ***Osteogenesis Imperfecta*** (***OI***) is a _GROUP of Disorders_ with *similar Main Features*. 2. **Main Features of Osteogenesis Imperfecta (OI):** * ***Fragile Bones*** *(Osteopenia) with **Recurrent Fractures*** * ***​**HALLMARK Finding* * *Blue Sclerae* * *Hearing Loss* * *Progressive Skeletal Deformity* * *Joint Laxity*
27
**OSTEOGENESIS IMPERFECTA (OI)** What is the _Most Common Form_ of ***Osteogenesis Imperfecta*** (***OI***)?
_Inherited_ **Autosomal Dominant** (**AD**) *_ENCODING_* of the ***Alpha-1*** & ***Alpha-2*** chains of **Type I Collagen** (**COL1A1** & **COL1A2**)
28
**OSTEOGENESIS IMPERFECTA (OI)** What (**4**) _Pieces of Information_ is the **Clinical Diagnosis** of ***Osteogenesis Imperfecta*** (***OI***) *based on*?
1. **History of Presenting Illness** 2. **Signs & Symptoms** 3. **Physical Exam** 4. **Family History** (*detailed*)

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