2.0 MTB Step 3 - Genetics/Dysmorphology Flashcards
Cards Complete
DOWN SYNDROME
RISK ASSOCIATED W/ ADVANCED MATERNAL AGE
What are (7) Classic Features of Down Syndrome (Trisomy 21)?
- Upward slanting Palpebral Fissures
- Speckling of Iris (Brushfield Spots)
- Inner Epicanthal folds
- Small Stature
- Late Fontanel Closure
- Mental Retardation
- Hypoplasia of the Middle Phalanx of the 5th finger
- High Arched Plate
- Microcephaly
DOWN SYNDROME
RISK ASSOCIATED W/ ADVANCED MATERNAL AGE
What are (4) Diagnostic Workups and (1) Association in a patient with Down Syndrome (Trisomy 21)?
Diagnostic Exams:
- Hearing Exam
-
Echocardiogram
- Endocardial Cushion Defect
- VSD
- PDA
- ASD
- MVP
-
Gastrointestinal Exam
- TEF
- Duodenal Atresia
-
TSH
- Hypothyroidism
Association:
-
Advancing Age
- High probability of developing ALL and Early-onset Alzheimer Disease.
EDWARDS SYNDROME
What are (7) Classic Features of Edwards Syndrome (Trisomy 18)?
- Low-set, Malformed ears
- Microcephaly
- Micrognathia
- Clenched hand (index over 3rd, 5th over 4th)
- Rocker-bottom feet and Hammar Toe
- Omphalocele
-
Structural Heart Defect
- VSD is Most Common
EDWARDS SYNDROME
What are (2) Diagnostic Workups and (1) Association in a patient with Edwards Syndrome (Trisomy 18) and what are the Disease Associations?
Diagnostic Exams:
-
Echocardiogram
- VSD
- ASD
- PDA
-
Renal Ultrasound (US)
- Polycystic Kidneys
- Ectopic or Double Ureter
Association:
- Most patients do NOT Survive first year of life.
PATAU SYNDROME
What are (5) Classic Features of Patau Syndrome (Trisomy 13)?
- Defects of Midface, Eye, and Forebrain Development
- Holoprosencephaly
- Microcephaly
- Microphthalmia
- Cleft Lip/Palate
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?
Diagnostic Exams:
-
Echocardiogram
- VSD
- PDA
- ASD
-
Renal Ultrasound (US)
- Polycystic Kidneys
Physical Finding:
- Single Umbilical Artery
W.A.G.R. SYNDROME
ANIRIDIA-WILMS TUMOR ASSOCIATION
What are the (4) Disorders that make up WAGR Syndrome?
- W ilms Tumor
- A niridi
- G U Anomalies
- R etardation (mental)
W.A.G.R. SYNDROME
ANIRIDIA-WILMS TUMOR ASSOCIATION
What Diagnostic Workup should be done when you see an Infant with Aniridia (absent iris)?
Do a complete workup for WAGR Syndrome
KLINEFELTER SYNDROME (XXY)
1 : 500 males
What are (4) Classic Features of Klinefelter Syndrome (XXY)?
- Low IQ
- Behavioral Problems
- Slim with Long Limbs
- Gynecomastia
KLINEFELTER SYNDROME (XXY)
1 : 500 males
- What is (1) Diagnostic Workup for Klinefelter Syndrome (XXY) and what are you looking for?
- What is the Treatment for Klinefelter Syndrome (XXY)
-
Testosterone levels
- Hypogonadism
- Hypogenitalism
-
Testosterone Replacement
- At age 11 - 12
TURNER SYNDROME (XO)
SPORADIC; NO ASSOCIATIONS
What are (7) Classic Features of Turner Syndrome (XO)?
- Female of Small Stature
- Gonadal Dysgenesis
- Low IQ
- Congenital Lymphedema
- Webbed Neck (posterior)
- Broad Chest
- Wide-spaced Nipples
TURNER SYNDROME (XO)
SPORADIC; NO ASSOCIATIONS
What are (3) Diagnostic Workups for Turner Syndrome (XO) and what are you looking for?
-
Renal Ultrasound (US)
- Horseshoe Kidney
- Double Renal Pelvis
-
Cardiac Exam
- Bicuspid Aortic Valve
- Coarctation of the Aorta
-
Thyroid Function
- Primary Hypothyroidism
TURNER SYNDROME (XO)
SPORADIC; NO ASSOCIATIONS
What are (3) Medical Treatments you can give to a patient with Turner Syndrome (XO)?
- Estrogen
- Growth Hormone (GH)
- Anabolic Steroid Replacement
FRAGILE X SYNDROME
VARIABLE NUMBER OF REPEAT CGG
What are (4) Classic Features of Fragile X Syndrome?
- Macrocephaly in early childhood
- Large Ears
- Large Testes
- Mental Retardation
Fragile X is the most common cause of MR in boys
FRAGILE X SYNDROME
VARIABLE NUMBER OF REPEAT CGG
What is (1) Disease Association with Fragile X Syndrome?
Attention Deficit Hyperactivity Syndrome
BECKWITH-WIEDEMANN SYNDROME
IGF-2 DISRUPTED AT 11P15.5
What are (5) Classic Features of Beckwith-Wiedemann Syndrome?
Multiorgan Enlargement:
- Macrosomia
- Macroglossia
- Pancreatic Beta-cell Hyperplasia (Hypoglycemia)
- Large Kidneys
- Neonatal Polycythemia
BECKWITH-WIEDEMANN SYNDROME
IGF-2 DISRUPTED AT 11P15.5
- What is (1) Disease Association with Beckwith-Wiedemann Syndrome?
- What Type of Screening Test should be performed in a patient with Beckwith-Wiedemann Syndrome?
- Increased Risk of Abdominal Tumors
- Obtain Ultrasounds and Serum AFP every 6 months through age 6 to look for Wilms Tumor and Hepatoblastoma.
PRADER-WILLI SYNDROME
DELETION OF 15q11q13
What are (4) Classic Features of Prader-Willi Syndrome?
- Obesity
- Mental Retardation
- Binge Eating
- Small Genitalia
PRADER-WILLI SYNDROME
DELETION OF 15q11q13
What is (1) Disease Association with Prader-Willi Syndrome?
Decreased Life Expectancy due to Morbid Obesity
ANGELMAN SYNDROME (Happy Puppet)
DELETION OF 15q11q13
What are (5) Classic Features of Angelman Syndrome?
- Mental Retardation
- Inappropriate Laughter
- Absent Speech or < 6 words
- Ataxia and Jerky Arm Movements resembling a puppet gait
- Recurrent Seizures
ANGELMAN SYNDROME (Happy Puppet)
DELETION OF 15q11q13
What is (1) Disease Association with Angelman Syndrome?
80% Develop
Epilepsy
ROBIN SEQUENCE
PIERRE ROBIN
What are (2) Classic Features of Robin Sequence?
- Mandibular Hypoplasia
- Cleft Palate
ROBIN SEQUENCE
PIERRE ROBIN
- What are (2) Disease Associations with Robin Sequence?
- What should be Monitored in an infant with Robin Sequence?
- Fetal Alcohol Syndrome and Edwards Syndrome
- Monitor Airway: Obstruction possible over the First 4 weeks of life.
BASIC SCIENCE CORRELATE
What is Trisomy most commonly caused by?
Nondisjunction during Meiosis
EHLERS-DANLOS SYNDROME (EDS)
What are (6) Physical Manifestations of Ehlers-Danlos Syndrome (EDS)?
- Extremely Elastic, Smooth Skin that is Fragile and Bruises easily.
- Wide, Atrophic Scars (flat or depressed scars)
- Joint Hypermobility
- Molluscoid Pseudotumors (calcified hematomas over pressure points such as the elbow)
- Spheroids (fat-containing cysts on forearms and shins)
- 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.***
OSTEOGENESIS IMPERFECTA (OI)
- What is Osteogenesis Imperfecta (OI)?
- What are the (5) Main Features of Osteogenesis Imperfecta (OI)?
- Osteogenesis Imperfecta (OI) is a GROUP of Disorders with similar Main Features.
-
Main Features of Osteogenesis Imperfecta (OI):
-
Fragile Bones (Osteopenia) with Recurrent Fractures
- HALLMARK Finding
- Blue Sclerae
- Hearing Loss
- Progressive Skeletal Deformity
- Joint Laxity
-
Fragile Bones (Osteopenia) with Recurrent Fractures
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)
OSTEOGENESIS IMPERFECTA (OI)
What (4) Pieces of Information is the Clinical Diagnosis of Osteogenesis Imperfecta (OI) based on?
- History of Presenting Illness
- Signs & Symptoms
- Physical Exam
- Family History (detailed)
