Genetic & Dysmorphology Flashcards
0
Q
Edward’s syndrome
A
- trisomy 18
- many spontaneous abortions or don’t live past 1YO
- mental retardation
- rocker bottom feet
- omphalocele
- VSD, ASD, PDA
- low set, malformed ears
- microcephaly, micrgnathia, short sternum
1
Q
Down syndrome sx
A
- mental retardation
- ALL
- early onset Alzheimer’s
- atlantoaxial instability
- duodenal atresia
- hypotonia
- hearing loss
- endocardial cushion defect > PDA, ASD, MVP
- upward slanting palpebral fissures
- epicanthial folds
2
Q
Patau syndrome
A
-trisomy 13
- holoproencephaly, CNS defects
- severe mental retardation
- microcephaly, microphthalmia
- cleft lip, palate
- cutis aplasia
- post axial polydactyly
- VSD, ASD, PDA
3
Q
WAGR syndrome
A
Wilms’ tumor
Aniridia
GU abnormality
Retardation
4
Q
Klinefelter syndrome px, tx
A
- XXY
- mental retardation
- behavioral problems
- long limbs, slim
- hypgonadism, hypogenitalism –> hypergonadotrophic hypogonadism = inc FSH, LH and low testosterone
-tx: testosterone replacement at 11-12YO
5
Q
Turner syndrome
A
- XO
- small stature female
- streak ovaries
- congenital lymphedema –> puffiness in fingers & toes
- broad chest, wide spaced nipples
- low posterior hairline, webbed posterior neck
- horseshoe kidney
- bicuspid aortic valve, coarctation, HTN
-tx: estrogen, growth hormone, anabolic steroids
6
Q
Fragile X Syndrome
A
- MCC of inherited mental retardation in males
- large ears, jaw, face, balls (macroorchidism)
- dysmorphic face
7
Q
Beckwith-Wiedemann Syndrome
A
- IGF2 gene disruption –> affected fetal growth factor
- macrosomia, macroglossia, hemihypertrophy
- pancreatic beta cell hyperplasia –> hypoglycemia
-ultrasounds & AFP to monitor for Wilms’ tumor & hepatoblastoma
8
Q
Prader-Willi Syndrome
A
- paternal chromosome 15 imprinting
- obesity + small genitals
- food related behavior problems, binge eating
- hypogonadotrophic hypogonasism
- mental retardation
-fat, mad, dumb, hungry, small peepers
9
Q
Angelman Syndrome
happy puppet syndrome
A
- maternal chromosome 15 imprinting
- severe MR
- inappropriate laughter
- absent speech
- ataxia, jerky arm movements (resembling a puppet)
-happy, laugh not speak, puppet
10
Q
Robin sequence
A
mandibular hypoplasia –> micrognathia + retroglossia + cleft soft palate
11
Q
Achondroplasia
A
- autosomal dominant
- FGFR3 mutation
- short/dwarfism
- megalocephaly, small foramen magnum
- lumbar lordosis
12
Q
Marfan Syndrome
A
- autosomal dominant
- fibrillin gene mutation
- tall, long/slim limbs
- arachnodactyly
- joint laxity –> kyphoscoliosis
- lens subluxation –> angle closure –> secondary glaucoma
- ascending aortic dilatation +/- dissecting aneurysm (common cause of death)
13
Q
Ehlers-Danlos Syndrome
A
- autosomal dominant (6 types)
- hyperextensible skin
- fragile, easy bruising, poor wound healing
- joint hyperlaxity –> dislocations of major joints
- aortic root dilatation
- blue sclera
- ectopia lentis
14
Q
Fetal Alcohol Syndrome
A
- prenatal (symmetric IUGR) and postnatal growth deficiency
- MR
- microcephaly
- hyperactivity in childhood
- mid-face dysmorphies
- abnormal frontal lobe development
- VSD >ASD, TOF
