Genetic/congenital conditions

Question 1

what is the chromosomal abnormality in Kleinfelter’s syndrome?

Answer 1

XXY

Question 2

what the the two classic features of kallmann syndrome?

Answer 2

anosmia

hypogonadism/infertility

Question 3

what is the chromosomal abnormality in Edward’s syndrome?

Answer 3

trisomy 18

Question 4

What is the least severe form of spina bifida?

Answer 4

spina bifida occulta

Question 5

what syndrome do we see an isolated cleft palate (e.g. cleft palate without cleft lip) and why does it occur?

Answer 5

Pierre Robin Syndrome

tongue does not sink down into the floor of the oral cavity and so maxillary plates cannot fuse together horizontally

Question 6

how might we classify cleft lip/palate?

Answer 6

unilateral/bilateral

complete/incomplete

Question 7

why are syndromes important to distinguish and understand?

Answer 7

anomalies can be predicted, and prognosis/future management can also be predicted/planned

Question 8

what is the enzyme deficiency in congenital adrenal hyperplasia? what does this cause?

Answer 8

21 hydroxylase deficiency

without this enzyme, the adrenals cannot make cortisol and aldosterone and so make androgens instead.

these androgens virilise the external genitalia which may make it ambiguous clinically what sex the baby is.

can affect both male and females

Question 9

what 2 main conditions can cause ambiguous genitalia?

Answer 9

CAH (congenital adrenal hyperplasia)

AIS (androgen insensitivity syndrome)

Question 10

what are the 4 features of TOF?

Answer 10

1. overriding aorta
2. right ventricular outflow obstruction/ pulmonary stenosis
3. right ventricular hypertrophy
4. ventricular septal defect

Think PROV

Question 11

why is a child with TOF centrally cyanosed?

Answer 11

because the right ventricular outflow tract is obstructed, the deoxygenated blood from the right side of the heart is shunted through the VSD to the left side of the heart, to be pumped out to the body. –> central cyanosis

Question 12

which hip is usually affected in hip dysplasia?

Answer 12

left hip in 65% of cases

Question 13

which congenital heart defects cause left to right shunt?

Answer 13

VSD
ASD
PDA

Question 14

which congenital heart defects cause right to left shunt?

Answer 14

TOF

transposition of great arteries

Question 15

how do left to right shunt heart defects present?

Answer 15

breathlessness

Question 16

how do right to left shunt heart defects present?

Answer 16

cyanosis

Question 17

what intrauterine infection is associated with a PDA or PS congenital heart defect?

Answer 17

rubella infection

Question 18

a pregnant woman has SLE. what must you consider?

Answer 18

anti-phospholipid syndrome –> miscarriage; and complete heart block in baby

Question 19

what congenital heart defects are associated with Down’s syndrome?

Answer 19

ASD

VSD

Question 20

what congenital heart defects are associated with turner’s syndrome?

Answer 20

coarctation of aorta

aortic valve stenosis

Question 21

why do infants with congestive heart failure excessively perspire during feeding?

Answer 21

for infants, metabolic demands are greatest during feeding, increased sympathetic activity causes perspiration

Question 22

what are the signs and symptoms of an infant with suspected CCF?

Answer 22

irritable, clammy baby
poor feeding
failure to thrive
problems with breathing/respiratory difficulties
recurrent respiratory infections

Question 23

what diseases can cause acquired heart defects in a child?

Answer 23

kawasaki’s disease

rheumatic fever

Question 24

What does tricuspid atresia refer to?

Answer 24

Absence of tricuspid valve–> leading to hypo plastic right ventricle –> right to left shunt through VSD

Question 25

What type of jaundice in an infant is most associated with congenital liver issues?

Answer 25

Conjugated hyper bilirubinism --> chronic prolonged jaundice

Question 26

What is biliary atresia?

Answer 26

Progressive inflammation and obliteration of biliary tree --> cirrhosis and liver failure

Question 27

what is the name of the syndrome for trisomy 13

Answer 27

patau's syndrome

Question 28

what are some clinical manifestations of down's syndrome?

Answer 28

``` • Wide spaced eyes • Generalised hypotonia • Protruding large tongue • Low set small ears • Single palmar creases • Flat occiput Small stature Intellectual disability ```

Question 29

what are some associated conditions with Down's syndrome?

Answer 29

``` • Cardiac- ASD, other cardiac anomalies • Endocrine- hypothyroidism • Neuro- Alzheimer's, epilepsy • Haem- AML • ENT- impaired hearing/vision, recurrent OM Gastro- duodenal atresia, Hirshsprung's ```

Question 30

what are the key clinical and most predominant/common features of Turner's syndrome?

Answer 30

``` short stature (may be the only feature) thick neck/ neck webbing infertility congenital heart anomalies (coarctation of aorta) normal intelligence ```

Question 31

how might we manage Turner's syndrome?

Answer 31

growth hormone therapy | oestrogen replacement therapy

Question 32

what is the main clinical presentation of kleinfelter's?

Answer 32

infertility and tall stature

Question 33

what type of genetic inheritance pattern is cystic fibrosis

Answer 33

autosomal recessive

Question 34

name the disorders that are inherited via an x-linked recessive pattern?

Answer 34

``` Fragile X Duchene's and Becker's MD Hunters syndrome G6PD deficiency Haemophilia A and B ```

Question 35

what are some clinical features of fragile x syndrome in boys?

Answer 35

large everted prominent ears macrocephaly significant learning difficulties

Question 36

what is the relationship between Prader Willi syndrome and Angelman syndrome?

Answer 36

these syndromes are the result of genetic imprinting phenomenon. Presence of an abnormal paternal copy of the gene on chromosome 15 results in Prader Willi. Lack of a functioning maternal copy of the same gene on chromosome results in Angelman syndrome. 2 x maternal copies of gene and NO paternal copies= PWS 2 x paternal copies of gene and NO maternal copies= AS

Question 37

what must you consider if you note a newborn has hypospadias?

Answer 37

always consider a disorder of sexual development, especially if the testes are not fully descended in the scrotum

Question 38

what are the 3 features of hypospadias?

Answer 38

Chordee Hooded dorsal foreskin Urethral opening is on the ventral surface of the penis