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GP, obstetrics, psych, paeds > Genetic/congenital conditions > Flashcards

Genetic/congenital conditions Flashcards

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1
Q

what is the chromosomal abnormality in Kleinfelter’s syndrome?

A

XXY

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2
Q

what the the two classic features of kallmann syndrome?

A

anosmia

hypogonadism/infertility

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3
Q

what is the chromosomal abnormality in Edward’s syndrome?

A

trisomy 18

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4
Q

What is the least severe form of spina bifida?

A

spina bifida occulta

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5
Q

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

A

Pierre Robin Syndrome

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

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6
Q

how might we classify cleft lip/palate?

A

unilateral/bilateral

complete/incomplete

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7
Q

why are syndromes important to distinguish and understand?

A

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

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8
Q

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

A

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

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9
Q

what 2 main conditions can cause ambiguous genitalia?

A

CAH (congenital adrenal hyperplasia)

AIS (androgen insensitivity syndrome)

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10
Q

what are the 4 features of TOF?

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

Think PROV

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11
Q

why is a child with TOF centrally cyanosed?

A

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

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12
Q

which hip is usually affected in hip dysplasia?

A

left hip in 65% of cases

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13
Q

which congenital heart defects cause left to right shunt?

A

VSD
ASD
PDA

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14
Q

which congenital heart defects cause right to left shunt?

A

TOF

transposition of great arteries

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15
Q

how do left to right shunt heart defects present?

A

breathlessness

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16
Q

how do right to left shunt heart defects present?

A

cyanosis

17
Q

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

A

rubella infection

18
Q

a pregnant woman has SLE. what must you consider?

A

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

19
Q

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

A

ASD

VSD

20
Q

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

A

coarctation of aorta

aortic valve stenosis

21
Q

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

A

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

22
Q

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

A 
irritable, clammy baby
poor feeding
failure to thrive
problems with breathing/respiratory difficulties
recurrent respiratory infections
23
Q

what diseases can cause acquired heart defects in a child?

A

kawasaki’s disease

rheumatic fever

24
Q

What does tricuspid atresia refer to?

A

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

25
Q

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

A

Conjugated hyper bilirubinism –> chronic prolonged jaundice

26
Q

What is biliary atresia?

A

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

27
Q

what is the name of the syndrome for trisomy 13

A

patau’s syndrome

28
Q

what are some clinical manifestations of down’s syndrome?

A 
• Wide spaced eyes
• Generalised hypotonia
• Protruding large tongue
• Low set small ears
• Single palmar creases
• Flat occiput
Small stature
Intellectual disability
29
Q

what are some associated conditions with Down’s syndrome?

A 
• Cardiac- ASD, other cardiac anomalies
• Endocrine- hypothyroidism
• Neuro- Alzheimer's, epilepsy
• Haem- AML
• ENT- impaired hearing/vision, recurrent OM
Gastro- duodenal atresia, Hirshsprung's
30
Q

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

A 
short stature (may be the only feature)
thick neck/ neck webbing
infertility
congenital heart anomalies (coarctation of aorta)
normal intelligence
31
Q

how might we manage Turner’s syndrome?

A

growth hormone therapy

oestrogen replacement therapy

32
Q

what is the main clinical presentation of kleinfelter’s?

A

infertility and tall stature

33
Q

what type of genetic inheritance pattern is cystic fibrosis

A

autosomal recessive

34
Q

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

A 
Fragile X
Duchene's and Becker's MD
Hunters syndrome
G6PD deficiency
Haemophilia A and B
35
Q

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

A

large everted prominent ears
macrocephaly
significant learning difficulties

36
Q

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

A

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

37
Q

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

A

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

38
Q

what are the 3 features of hypospadias?

A

Chordee

Hooded dorsal foreskin

Urethral opening is on the ventral surface of the penis

GP, obstetrics, psych, paeds (55 decks)

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