Week 1: Intro and dysmorphology

Question 1

The best testing choice for a patient with developmental delay, ASD, and non-specific dysmorphic features would be

Answer 1

CMA

-First tier test for DD, ASD, birth defects, multiple congenital anomalies
-However, some practices switching over to exome with CNV analysis especially in cases of NICU babies

Question 2

If CMA is negative, what could next steps be?

Answer 2

-Consider how severe or dysmorphic child is
-Autism or ID panel (if so, how big?)
-Genome/exome

More severely affected/larger fhx= greater chance to find answer

Question 3

What is the most common cause of heart defect? What is first tier testing for heart defects?

Answer 3

-Usually multifactorial/unexplained, might be coincidence
-First tier still CMA, chromosome anomaly severe enough to cause CHD, seizures, short stature, most likely also cause delays

Question 4

Name reasons for short stature in a patient

Answer 4

-Genetic condition
-Hormone issues
-Slow grower
-Familial genetics
-Poor nutrition

Question 5

If seizures present with normal intelligence, is the underlying genetic cause more likely to be a sequence variant or a CNV?

Answer 5

Seizures often due to sequence variant, not CNVs, especially if normal intellgence

Question 6

Differentiate DD from ID

Answer 6

-Delays=child is behind on 1+ of early milestones, confers increased risk for ID
-ID can’t be diagnosed until 5 or older
-AAP says term DD should be reserved for children 5yo and under

Question 7

Label the following presentations as genetic testing being usually warranted or probably not warranted:
-GDD
-ADHD
-Mild gross motor delay
-Specific learning disability
-Speech/language delay:
-Delayed dev milestones
-Speech articulation issues:

Answer 7

-GDD: usually
-ADHD: prob not
-Mild gross motor delay: prob not
-Specific learning disability: prob not
-Speech/language delay: usually
-Delayed dev milestones: usually
-Speech articulation issues: prob not

Question 8

T/F fragile X testing is still considered a first tier test for ID and ASD

Answer 8

Nope unless physical exam of fhx suggests

Question 9

Roughly what is the testing yield for CMA for dev delays?

Answer 9

10-20%

Question 10

Roughly what is testing yield for exome for dev delays?

Answer 10

30-35%

Question 11

Roughly what is the yield for doing all the testing (CMA, fragile X, sequence variants, etc) for dev delays?

Answer 11

30-35%

Question 12

See dysmorphology lecture??

Answer 12

ya

Question 13

A triangular head can often be associated with what syndrome?

Answer 13

Russel silver syndrome

Question 14

A square head can often be associated with what syndrome?

Answer 14

CHARGE syndrome

Question 15

A narrow head can often be associated with what type of disorders?

Answer 15

connective tissue disorders

Question 16

A flat face can often be associated with what syndrome?

Answer 16

Stickler syndrome

Question 17

Malar flattening can often be associated with what syndrome?

Answer 17

Marfan syndrome

Question 18

Midface protrusion or hypoplasia can often be associated with what syndrome?

Answer 18

Achondroplasia

Question 19

Upslanted palpebral fissures can often be associated with what syndrome?

Answer 19

T21

Question 20

Downslanted palpebral fissures can often be associated with what syndrome?

Answer 20

Noonan syndrome

Question 21

Eyelid clefts or notched eyelids can often be associated with what syndrome?

Answer 21

Treacher collins syndrome

Question 22

A question mark ear can often be associated with what syndrome?

Answer 22

CHARGE syndrome

Question 23

Anteverted nares can often be associated with what syndrome?

Answer 23

SLO

Question 24

A depressed nasal bridge can often be associated with what syndrome?

Answer 24

achondroplasia

Question 25

A smooth philtrum can often be associated with what syndrome?

Answer 25

FAS

Question 26

A thin upper vermillion border can often be associated with what syndrome?

Answer 26

FAS

Question 27

Macroglossia can often be associated with what syndrome?

Answer 27

BWS

Question 28

Bifid uvula/cleft uvula can often be associated with what syndrome?

Answer 28

Stickler syndrome

Question 29

Clinodactyly of the 5th finger can often be associated with what syndrome?

Answer 29

T21

Question 30

Camptodactyly can often be associated with what syndrome?

Answer 30

Escobar syndrome

Question 31

Oligodactyly can often be associated with what syndrome?

Answer 31

Holt Oram

Question 32

Polydactyly can often be associated with what syndrome?

Answer 32

T13

Question 33

Small nails/hypoplastic nails can often be associated with what syndrome?

Answer 33

Coffin Siris syndrome

Question 34

Hyperconvex nails can often be associated with what syndrome?

Answer 34

Turner syndrome

Question 35

Pectus excavatum can often be associated with what syndromes or groups of disorders?

Answer 35

-Connective tissue disorders
-Loeys Dietz
-Marfan