CONGENITAL AND BRAIN MALFORMATIONS 1.3 (based on Agsa T)

Question 1

“What causes Angelman Syndrome?”

Answer 1

Loss or mutations of the maternally-derived UBE3A gene on chromosome 15.

Question 2

“What are the key physical features of Angelman Syndrome?”

Answer 2

Developmental delay, microbrachycephaly, widely-spaced teeth, prominent mandible.

Question 3

“What are the speech and language characteristics of Angelman Syndrome?”

Answer 3

Profound language delays with minimal or no speech; receptive language and nonverbal skills are better than expressive skills.

Question 4

“What are the movement and behavioral characteristics of Angelman Syndrome?”

Answer 4

Jerky, ataxic gait with raised arms; hyperactivity; happy, smiling demeanor.

Question 5

“What genetic abnormality causes Williams Syndrome?”

Answer 5

Contiguous gene deletions in the 7q11.23 region.

Question 6

“What are the characteristic facial features of Williams Syndrome?”

Answer 6

Elfin face, long brow, low nasal bridge, broad philtrum, small widely spaced teeth.

Question 7

“What personality traits are associated with Williams Syndrome?”

Answer 7

Gregarious personality, smiling demeanor, very active.

Question 8

“What cardiac and metabolic abnormalities are seen in Williams Syndrome?”

Answer 8

Supraclavicular aortic stenosis, infantile hypercalcemia.

Question 9

“What eye feature is characteristic of Williams Syndrome?”

Answer 9

Blue eyes with a starry pattern.

Question 10

“What is global developmental delay?”

Answer 10

A delay in all domains of development.

Question 11

“What causes Mucopolysaccharidoses (MPS)?”

Answer 11

An inborn error of metabolism affecting glycosaminoglycan metabolism.

Question 12

“What are the three main types of Mucopolysaccharidoses?”

Answer 12

Hurler syndrome (MPS I), Hunter syndrome (MPS II), Sanfilippo syndrome (MPS III).

Question 13

“What enzyme deficiency causes Hurler syndrome (MPS I)?”

Answer 13

Alpha-L-iduronidase deficiency.

Question 14

“What enzyme deficiency causes Hunter syndrome (MPS II)?”

Answer 14

Iduronate-2-sulfatase deficiency.

Question 15

“What inheritance pattern does Hurler syndrome (MPS I) follow?”

Answer 15

Autosomal recessive (AR).

Question 16

“What inheritance pattern does Hunter syndrome (MPS II) follow?”

Answer 16

X-linked.

Question 17

“What substance accumulates in Sanfilippo syndrome (MPS III)?”

Answer 17

Heparan sulfate.

Question 18

“What are key clinical features of Mucopolysaccharidoses?”

Answer 18

Global developmental delay, hepatosplenomegaly, dysmorphic features.

Question 19

“What genetic abnormality causes Fragile X Syndrome?”

Answer 19

Trinucleotide (CGG) repeat expansion in the FMR1 gene.

Question 20

“What are key physical features of Fragile X Syndrome?”

Answer 20

Large ears, long narrow face, midface hypoplasia, large lips, prominent jaw.

Question 21

“What are key behavioral features of Fragile X Syndrome?”

Answer 21

Moderate-severe developmental delay, macroorchidism, hyperactivity, aggressiveness, autism, ADHD.

Question 22

“What percentage of boys with autism have Fragile X Syndrome?”

Answer 22

1-2%.

Question 23

“How is Fragile X Syndrome diagnosed?”

Answer 23

Molecular analysis of the FMR1 gene.

Question 24

“What are additional features of Fragile X Syndrome?”

Answer 24

Crowding high arched palate, mitral valve prolapse, neurobehavioral abnormalities.

Question 25

"What are the key clinical features of Noonan Syndrome?"

Answer 25

Motor developmental delay, short stature, congenital heart disease (pulmonary valve stenosis or hypertrophic cardiomyopathy).

Question 26

"What are the characteristic facial features of Noonan Syndrome?"

Answer 26

Hypertelorism, low-set/abnormally shaped ears, vivid blue or blue-green irises.

Question 27

"What are additional physical features of Noonan Syndrome?"

Answer 27

Curly hair (even if parents don’t have curly hair), prominent head, deep groove in the philtrum.

Question 28

"What are the neonatal features of Noonan Syndrome?"

Answer 28

Down-slanted palpebral fissures, prominent excess nuchal folds, edematous dorsum of hands/feet.

Question 29

"What is the second most common syndrome after Down Syndrome?"

Answer 29

Cornelia de Lange Syndrome.

Question 30

"What is the cognitive impact of Cornelia de Lange Syndrome?"

Answer 30

Moderate to severe intellectual disability.

Question 31

"What are the characteristic facial features of Cornelia de Lange Syndrome?"

Answer 31

Synophrys (confluent eyebrows), arched eyebrows, long eyelashes, microcephaly, low hairline.

Question 32

"What are additional clinical features of Cornelia de Lange Syndrome?"

Answer 32

Hearing loss, autism, cardiac septal defects, hypoplastic genitalia.

Question 33

"What is the inheritance pattern of Cornelia de Lange Syndrome?"

Answer 33

X-linked or autosomal dominant.

Question 34

"What causes Fetal Alcohol Syndrome (FAS)?"

Answer 34

Alcohol intake during pregnancy.

Question 35

"What is another name for Fetal Alcohol Syndrome (FAS)?"

Answer 35

Fetal Alcohol Spectrum Disorder (FASD).

Question 36

"Why is gestational history important in diagnosing congenital problems?"

Answer 36

Because the insult usually takes place in utero.

Question 37

"What are the key neurodevelopmental features of Fetal Alcohol Syndrome?"

Answer 37

Developmental delay, intellectual disability, hyperactivity, failure to thrive, microcephaly, and cardiac defects.

Question 38

"What are the characteristic facial features of Fetal Alcohol Syndrome?"

Answer 38

Short palpebral fissures, short upturned nose, smooth long philtrum, thin vermillion border of the upper lip.

Question 39

"What are the characteristic limb abnormalities in Fetal Alcohol Syndrome?"

Answer 39

Small fingers and fingernails.

Question 40

"What are essential steps in evaluating a dysmorphic child?"

Answer 40

Good history, thorough physical examination, reference comparison, and pattern recognition.

Question 41

"What physical assessments should be performed on a child with suspected FAS?"

Answer 41

Head-to-toe physical examination and developmental assessment (motor, language, behavior).

Question 42

"Why is it useful to examine family photographs in cases of dysmorphic children?"

Answer 42

To identify any resemblances or similarities to grandparents, parents, and siblings.

Question 43

"How should parents be guided through the diagnostic process of FAS?"

Answer 43

Explain the need for various tests and the importance of developmental assessment.

Question 44

"What is the most important aspect of managing congenital brain and nervous system abnormalities?"

Answer 44

Prognostication.

Question 45

"What specialists are involved in managing Fetal Alcohol Syndrome?"

Answer 45

Pediatrician, neurologist, geneticist, physical therapist, occupational therapist, social workers.

Question 46

"Is there a cure for Fetal Alcohol Syndrome?"

Answer 46

No, but management aims to maximize the child's full potential.