congentical syndromes

Question 1

upslanting palpebral fissures, epicanthic folds, small low-set ears and a round face?

Answer 1

Down’s syndrome

Question 2

tall stature, arm span to height ratio > 1.05, high-arched palate and pectus excavatum.

Answer 2

MArfans - autosomal dominant connective tissue disorder

Question 3

Conditions that Down’s is associated with?

Answer 3

duodenal atresia
Hirschsprung's disease
repeated respiratory infections (+hearing impairment from glue ear)
acute lymphoblastic leukaemia
hypothyroidism
Alzheimer's disease
atlantoaxial instability
subfertilitiy

Question 4

Down’s - heart complications?

Answer 4

multiple cardiac problems may be present
endocardial cushion defect (most common, 40%, also known as atrioventricular septal canal defects)
ventricular septal defect (c. 30%)
secundum atrial septal defect (c. 10%)
tetralogy of Fallot (c. 5%)
isolated patent ductus arteriosus (c. 5%)

Question 5

lymphodeama in neonate?

Answer 5

turners

Question 6

short stature
shield chest, widely spaced nipples
webbed neck
bicuspid aortic valve (15%), coarctation of the aorta (5-10%)
primary amenorrhoea

Answer 6

Turners

Question 7

Heart conditons with turners?

Answer 7

CoA, BAV

Question 8

short 4th metacarpal

Answer 8

turners

Question 9

Conditions AF with turners?

Answer 9

hypothyroidism is much more common in Turner’s
horseshoe kidney: the most common renal abnormality in Turner’s syndrome

There is also an increased incidence of autoimmune disease (especially autoimmune thyroiditis) and Crohn’s disease
primary amen, raised gonadotrophins,
SNHL

Question 10

systolic murmur in the left infraclavicular area and under the left scapula.

Answer 10

CoA - turners

Question 11

huntingtons - AD/AR?

Answer 11

AD

Question 12

/duchenne heart complication?

Answer 12

dilated CMP

Question 13

47XXY

Answer 13

klinfelters

Question 14

46XY

Answer 14

androgen insensitivity

Question 15

DX with buccal smear, risk of tesicular cancer , low test, high LH

Answer 15

androgen insensitivty

Question 16

An infant is found to have small eyes and polydactyly

Answer 16

patau syndrome

Question 17

Transient neonatal hypercalcaemia

Answer 17

williams

Question 18

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
a boy

Answer 18

nooan

Question 19

conditions with nooan syndroms

Answer 19

Pulmonary stenosis

Question 20

Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism

Answer 20

fragile X

Question 21

Pansystolic murmur in lower left sternal border

Answer 21

VSD

Question 22

Ejection systolic murmur in the upper left sternal border

Answer 22

pulmonary stenosis

Question 23

Crescendo-decrescendo murmur in the upper left sternal border

Answer 23

CoA

Question 24

trisomy 13?

Answer 24

patau

Question 25

trisomy 18?

Answer 25

edward’s - edward wont make it till 18

Question 26

AF with cystic fibrosis?

Answer 26

short stature
diabetes mellitus
delayed puberty
rectal prolapse (due to bulky stools)
nasal polyps
male infertility, female subfertility

Question 27

Which conditions are passed only through maternal line?

all maternal children will inherit this disease

Answer 27

mitochonidal diseases -
muscle biopsy classically shows ‘red, ragged fibres’ due to increased number of mitochondria
Examples include:
Leber’s optic atrophy
MELAS syndrome: mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
MERRF syndrome: myoclonus epilepsy with ragged-red fibres
Kearns-Sayre syndrome: onset in patients < 20 years old, external ophthalmoplegia, retinitis pigmentosa. Ptosis may be seen
sensorineural hearing loss

Question 28

complications of measles?

Answer 28

otitis media: the most common complication
pneumonia: the most common cause of death
encephalitis: typically occurs 1-2 weeks following the onset of the illness)
subacute sclerosing panencephalitis: very rare, may present 5-10 years following the illness
febrile convulsions
keratoconjunctivitis, corneal ulceration
diarrhoea
increased incidence of appendicitis
myocarditis