Genetic & dysmorphologic disorders

Question 1

Fetal alcohol syndrome- Eti

Answer 1

• Prenatal alcohol exposure

Question 2

Fetal alcohol syndrome- Sx

Answer 2

• Short palpebral fissures
• Thin upper lip
• Indistinct philtrum
• Growth deficiency
• CNS damage & neurodevelopment abn (impulse control, learning disab.)

Question 3

Fetal alcohol syndrome- Dx

Answer 3

• Clinical

- Growth, dysmorphic features, behavior/ cognitive

Question 4

Fetal alcohol syndrome- Tx

Answer 4

• Structured environment

- Psychpharmalogic intervention of attention & mood

Question 5

Turner syndrome- Eti

Answer 5

• X monosopmy & gonadal dysgenesis
• 1 per 10,000 females
• Only 5% liveborn

Question 6

Turner syndrome- Sx

Answer 6

• Webbed neck
• Wide nipples & amenorrhea
• Shield chest
• Absence of 2 sex characteristics
• Triangular facies
• Short stature
• Coarctation of aorta

Question 7

Turner syndrome- Tx

Answer 7

• Estrogen replacement

- Growth hormone

Question 8

Kleinfelter syndrome- Eti

Answer 8

1/1000 males
XXY
Dx rarely before puberty

Question 9

Kleinfelter syndrome- Sx

Answer 9

• Microorchidism
• Azoospermia, sterility & gynecomastia
• Borderline IQ
• Lack of libido, potency
• Tall, eunuchoid build

Question 10

Kleinfelter syndrome- Tx

Answer 10

Testosterone replacement therapy

Question 11

Down syndrome- Eti

Answer 11

• 1:700 newborns

- Trisomy 21

Question 12

Down syndrome- Sx

Answer 12

• 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

Question 13

Neurofibromatosis- Eti

Answer 13

• Autosomal dominant
• 1/3000
• All races & ethnic groups
• Chromosome 17- tumor suppresor factor
• 100% penetrance

Question 14

Neurofibromatosis- Sx

Answer 14

• Cafe au lait macules
• Lisch nodules (melanocytes on iris)
• Neurofibromas
• Large head, bony abn. scoliosis, development disorders

Question 15

Neurofibromatosis- Dx

Answer 15

> 6 5mm cafe au last spots

• 2+ neurofibromas
• Axillary or inguinal freckling
• 2+ lish nodules
• Distinct bony lesions

Question 16

Neurofibromatosis- Tx

Answer 16

• Genetic counseling

- Monitor height, HC, BP, CV, skin

Question 17

Fragile x- Eti

Answer 17

• Most commonly inherited intellectual disability
• Trinucleotide expansion
• Men & women
• Girls less affected

Question 18

Fragile x- Sx

Answer 18

• Shyness, social anxiety, learning issues
• ADHD, anxiety, autistic like features
• Prominent ears
• Hyperextensible finger joints
• Macroorchidism at puberty

Question 19

Fragile x- Tx

Answer 19

• Speech & language tx
• Tx ADHD, aggression, anxiety
• Genetic counseling

Question 20

Duchenne MD- Eti

Answer 20

• Genetic defect on short arm of X
• Code for protein dystrophin
• Detectable in pregnancy

Question 21

Duchenne MD- Sx

Answer 21

• Pseudohypertrophy of muscles
• Intellectual retardation
• Skeletal deformaties
• Muscle contractures
• Cardiac involvement

Question 22

Duchenne MD- Tx

Answer 22

• Prednisone- improves strength

- PT & othropedics