Genetic/congenital conditions Flashcards
what is the chromosomal abnormality in Kleinfelter’s syndrome?
XXY
what the the two classic features of kallmann syndrome?
anosmia
hypogonadism/infertility
what is the chromosomal abnormality in Edward’s syndrome?
trisomy 18
What is the least severe form of spina bifida?
spina bifida occulta
what syndrome do we see an isolated cleft palate (e.g. cleft palate without cleft lip) and why does it occur?
Pierre Robin Syndrome
tongue does not sink down into the floor of the oral cavity and so maxillary plates cannot fuse together horizontally
how might we classify cleft lip/palate?
unilateral/bilateral
complete/incomplete
why are syndromes important to distinguish and understand?
anomalies can be predicted, and prognosis/future management can also be predicted/planned
what is the enzyme deficiency in congenital adrenal hyperplasia? what does this cause?
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
what 2 main conditions can cause ambiguous genitalia?
CAH (congenital adrenal hyperplasia)
AIS (androgen insensitivity syndrome)
what are the 4 features of TOF?
- overriding aorta
- right ventricular outflow obstruction/ pulmonary stenosis
- right ventricular hypertrophy
- ventricular septal defect
Think PROV
why is a child with TOF centrally cyanosed?
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
which hip is usually affected in hip dysplasia?
left hip in 65% of cases
which congenital heart defects cause left to right shunt?
VSD
ASD
PDA
which congenital heart defects cause right to left shunt?
TOF
transposition of great arteries
how do left to right shunt heart defects present?
breathlessness
how do right to left shunt heart defects present?
cyanosis
what intrauterine infection is associated with a PDA or PS congenital heart defect?
rubella infection
a pregnant woman has SLE. what must you consider?
anti-phospholipid syndrome –> miscarriage; and complete heart block in baby
what congenital heart defects are associated with Down’s syndrome?
ASD
VSD
what congenital heart defects are associated with turner’s syndrome?
coarctation of aorta
aortic valve stenosis
why do infants with congestive heart failure excessively perspire during feeding?
for infants, metabolic demands are greatest during feeding, increased sympathetic activity causes perspiration
what are the signs and symptoms of an infant with suspected CCF?
irritable, clammy baby poor feeding failure to thrive problems with breathing/respiratory difficulties recurrent respiratory infections
what diseases can cause acquired heart defects in a child?
kawasaki’s disease
rheumatic fever
What does tricuspid atresia refer to?
Absence of tricuspid valve–> leading to hypo plastic right ventricle –> right to left shunt through VSD
What type of jaundice in an infant is most associated with congenital liver issues?
Conjugated hyper bilirubinism –> chronic prolonged jaundice
What is biliary atresia?
Progressive inflammation and obliteration of biliary tree –> cirrhosis and liver failure
what is the name of the syndrome for trisomy 13
patau’s syndrome
what are some clinical manifestations of down’s syndrome?
• Wide spaced eyes • Generalised hypotonia • Protruding large tongue • Low set small ears • Single palmar creases • Flat occiput Small stature Intellectual disability
what are some associated conditions with Down’s syndrome?
• Cardiac- ASD, other cardiac anomalies • Endocrine- hypothyroidism • Neuro- Alzheimer's, epilepsy • Haem- AML • ENT- impaired hearing/vision, recurrent OM Gastro- duodenal atresia, Hirshsprung's
what are the key clinical and most predominant/common features of Turner’s syndrome?
short stature (may be the only feature) thick neck/ neck webbing infertility congenital heart anomalies (coarctation of aorta) normal intelligence
how might we manage Turner’s syndrome?
growth hormone therapy
oestrogen replacement therapy
what is the main clinical presentation of kleinfelter’s?
infertility and tall stature
what type of genetic inheritance pattern is cystic fibrosis
autosomal recessive
name the disorders that are inherited via an x-linked recessive pattern?
Fragile X Duchene's and Becker's MD Hunters syndrome G6PD deficiency Haemophilia A and B
what are some clinical features of fragile x syndrome in boys?
large everted prominent ears
macrocephaly
significant learning difficulties
what is the relationship between Prader Willi syndrome and Angelman syndrome?
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
what must you consider if you note a newborn has hypospadias?
always consider a disorder of sexual development, especially if the testes are not fully descended in the scrotum
what are the 3 features of hypospadias?
Chordee
Hooded dorsal foreskin
Urethral opening is on the ventral surface of the penis
