1
Q
Fetal alcohol syndrome- Eti
A
- Prenatal alcohol exposure
2
Q
Fetal alcohol syndrome- Sx
A
- Short palpebral fissures
- Thin upper lip
- Indistinct philtrum
- Growth deficiency
- CNS damage & neurodevelopment abn (impulse control, learning disab.)
3
Q
Fetal alcohol syndrome- Dx
A
- Clinical
- Growth, dysmorphic features, behavior/ cognitive
4
Q
Fetal alcohol syndrome- Tx
A
- Structured environment
- Psychpharmalogic intervention of attention & mood
5
Q
Turner syndrome- Eti
A
- X monosopmy & gonadal dysgenesis
- 1 per 10,000 females
- Only 5% liveborn
6
Q
Turner syndrome- Sx
A
- Webbed neck
- Wide nipples & amenorrhea
- Shield chest
- Absence of 2 sex characteristics
- Triangular facies
- Short stature
- Coarctation of aorta
7
Q
Turner syndrome- Tx
A
- Estrogen replacement
- Growth hormone
8
Q
Kleinfelter syndrome- Eti
A
1/1000 males
XXY
Dx rarely before puberty
9
Q
Kleinfelter syndrome- Sx
A
- Microorchidism
- Azoospermia, sterility & gynecomastia
- Borderline IQ
- Lack of libido, potency
- Tall, eunuchoid build
10
Q
Kleinfelter syndrome- Tx
A
Testosterone replacement therapy
11
Q
Down syndrome- Eti
A
- 1:700 newborns
- Trisomy 21
12
Q
Down syndrome- Sx
A
- Mild to moderate cognitive abilities
- Generalized hypotonia
- Newborn= prolonged jaundice, polycytemia & feeding problems
- Flattened occiput, upslanting palpebral fissures, epicanthal folds, dysplastic pinnae
- Limb abn
- Congenital heart disease
13
Q
Neurofibromatosis- Eti
A
- Autosomal dominant
- 1/3000
- All races & ethnic groups
- Chromosome 17- tumor suppresor factor
- 100% penetrance
14
Q
Neurofibromatosis- Sx
A
- Cafe au lait macules
- Lisch nodules (melanocytes on iris)
- Neurofibromas
- Large head, bony abn. scoliosis, development disorders
15
Q
Neurofibromatosis- Dx
A
> 6 5mm cafe au last spots
- 2+ neurofibromas
- Axillary or inguinal freckling
- 2+ lish nodules
- Distinct bony lesions
16
Q
Neurofibromatosis- Tx
A
- Genetic counseling
- Monitor height, HC, BP, CV, skin
17
Q
Fragile x- Eti
A
- Most commonly inherited intellectual disability
- Trinucleotide expansion
- Men & women
- Girls less affected
18
Q
Fragile x- Sx
A
- Shyness, social anxiety, learning issues
- ADHD, anxiety, autistic like features
- Prominent ears
- Hyperextensible finger joints
- Macroorchidism at puberty
19
Q
Fragile x- Tx
A
- Speech & language tx
- Tx ADHD, aggression, anxiety
- Genetic counseling
20
Q
Duchenne MD- Eti
A
- Genetic defect on short arm of X
- Code for protein dystrophin
- Detectable in pregnancy
21
Q
Duchenne MD- Sx
A
- Pseudohypertrophy of muscles
- Intellectual retardation
- Skeletal deformaties
- Muscle contractures
- Cardiac involvement
22
Q
Duchenne MD- Tx
A
- Prednisone- improves strength
- PT & othropedics
