Dysmorphism

Question 1

What is the most common preventable cause of intellectual disability

Answer 1

FASD

Question 2

How do you dx FASD

Answer 2

maternal drinking

Question 3

What are all the dysmorphisms seen in FASD (8)

Answer 3

low nasal bridge, minor ear abnormalities, indistinct phlitrum, micrognathia, epicanthial folds, short palpebral fissures, thin upper lip, fat mid face and short nose

Question 4

What are the discriminating features of FASD? (5)

Answer 4

short palpebral fissures, flat mid face, short nose, indistinct philtrum, thin upper lip

Question 5

What are the associated features of FASD?

Answer 5

Epicanthial folds, low nasal bridge, minor ear abnormalities, micrognathia

Question 6

What are the S&S of untreated congenital hypothyroidism

Answer 6

jaundice, poor feeding, hypotonia, macroglossia (large tongue), large fontanelles, delayed closure, course facial features, MR, short stature

Question 7

What do amniotic bands do?

Answer 7

The bands rupture and flick off and can amputate a digit or constrict it

Question 8

What is cretinism

Answer 8

severe hypothyroidism in the newborn

Question 9

What causes cretinism?

Answer 9

lack of thyroxine form birth, or before birth. Could be from lack of thyroid gland or lack of iodine in mother

Question 10

What is one of the key signs of cretinism

Answer 10

macroglassia

Question 11

What are some keys of turners syndrome

Answer 11

lymphatic swelling (hands/feet), wide set nipples, webbed neck and extra skin, low posterior hairline, discoloured spots on skin

Question 12

What is seen in utero with turners syndrome

Answer 12

cystic hygroma

Question 13

What is similar to turners in males?

Answer 13

noonans syndrome

Question 14

What is the incidence of fragile X syndrome

Answer 14

1:4000 in males

Question 15

What are the clinical manifestations in fragile x syndrome?

Answer 15

cognitive difficulties, attention and behavioural problems, macroorchidism, mild facial dysmorphologies, CT abnormalities (hyper extensible), anticipation (repeat disorders)

Question 16

Kinefelters has what kind of testes?

Answer 16

Microorchidism?

Question 17

What are the clinical manifestations of Marfans syndrome?

Answer 17

Tall, skinny, long arms, long legs, long fingers, long toes, chest cavity

Question 18

Are there sx of klinefelters pre pubertal?

Answer 18

no

Question 19

what are the hormonal abnormalities in klinefelters?

Answer 19

low androgens, too much estrogen

Question 20

What are two “drugs” that have been linked to gynecomatia?

Answer 20

etoh, marijuana

Question 21

Clinical manifestations of Klinefelters?

Answer 21

gynecomastia, microorchidism

Question 22

What is the most common karyotype in klinefelters

Answer 22

47 XXY

Question 23

What are the three types of spina bifida?

Answer 23

Occulta (hair tuft), Meningocele (no nerves out), myelomeningocele (nerves out

Question 24

What is one workup for gynecomastia and microorchidism?

Answer 24

karyotyping

Question 25

at what week does the neural cord close?

Answer 25

4 weeks

Question 26

Failure of the neural lord to close causes what?

Answer 26

spina bifida

Question 27

What is anencephaly?

Answer 27

when the cranioneural cord doesn't develop

Question 28

What is a meningocele?

Answer 28

when the meninges herniate

Question 29

What is a myelomeningocele?

Answer 29

when the meninges and spinal cord herniate

Question 30

how do you prevent?

Answer 30

screen in utero via US mom takes folic acid

Question 31

What is the normal dose of folic acid prenatally?

Answer 31

0.4mg

Question 32

What are the key features of downs syndrome?

Answer 32

single palmar crease, widely separated first and second toes and increased skin spaces, flattened nose and face, upward slanting eyes, brush fields spots

Question 33

What is the one feature of downs that is very important to know?

Answer 33

Brushfields spots

Question 34

What medical condition are individuals with Downs predisposed to (GENETIC)

Answer 34

Genetic; | Dysmorphic features, mental retardation

Question 35

What medical condition are individuals with Downs predisposed to (GI)

Answer 35

GI; | Tracheo-esophageal fistula, duodenal atresia/stenosis, annular pancrease, malrotation, and volvulus

Question 36

What medical condition are individuals with Downs predisposed to (CARDIAC)

Answer 36

Cardiac; | Endocardial cushion defects, PDA, tetralogy and multiple defects

Question 37

What medical condition are individuals with Downs predisposed to (ENT)

Answer 37

ENT Recurrent external and middle ear infections (mostly serous – Glue ear), narrow ear canals, hearing problems, increased incidence serous otitis, impacted cerumen, dry skin, upper respiratory disease and pneumonia, sleep apnea

Question 38

What medical condition are individuals with Downs predisposed to (endocrine)

Answer 38

Endocrine | Congenital hypothyroidism, diabetes, hypo/hyper thyroidism

Question 39

What medical condition are individuals with Downs predisposed to (optho)

Answer 39

Eyes | Strabismus, refractive error, keratoconus and straphyloma, premature cataracts

Question 40

What medical condition are individuals with Downs predisposed to (MSK)

Answer 40

MSK | Hypotonic, dysplastic hips, atlanto-axial instability leading to subluxation, degenerative disease of the cervical spine

Question 41

What medical condition are individuals with Downs predisposed to (Immunology)

Answer 41

Immunology Hep B carrier state leading to cirrhosis and carcinoma of the liver, chronic tinea pedis and tinea unguium, thyroid dysfunction, leukemia

Question 42

What medical condition are individuals with Downs predisposed to (Neuropsych)

Answer 42

Neuro/psych | Seizures, depression, dementia (Alzheimer’s type)

Question 43

What medical condition are individuals with Downs predisposed to (behaviour)

Answer 43

Behaviour | Non complaince, aggression, self injurious behaviour

Question 44

What medical condition are individuals with Downs predisposed to (Dental)

Answer 44

Dental | Delayed/abnormal eruption of teeth, gingivitis, periodontal disease, malocclusion, bruxism

Question 45

What would a positive maternal serum screen for Down Syndrome be? (List test components)

Answer 45

Maternal serum screen: AFP decreased Estradiol decreased B-HCG increased

Question 46

What would a positive maternal serum screen for Edwards be? (List test components)

Answer 46

Edwards- all down