Paediatric Congenital Conditions

Question 1

four congenital conditions in paediatrics

Answer 1

1. osteogenesis imperfecta
2. skeletal dysplasias
3. connective tissue disorders
4. muscular dystrophies

Question 2

what is osteogenesis imperfecta?

Answer 2

brittle bone disease

Question 3

cause of osteogenesis imperfecta

Answer 3

AD defect of maturation and organisation of type 1 collagen

Question 4

what does osteogenesis imperfecta lead to/present with?

Answer 4

multiple fractures

Question 5

layman terms for skeletal dysplasia?

Answer 5

Dwarfism/ short stature

Question 6

what causes skeletal dysplasia?

Answer 6

genetic inheritance

Question 7

what is the most common skeletal dysplasia?

Answer 7

achondroplasia

Question 8

how is achondroplasia inherited?

Answer 8

AD

Question 9

presentation of achondroplasia

Answer 9

short limbs
prominent forehead
wide nose
joints are lax
some are associated with learning difficulties

Question 10

management of skeletal dysplasia

Answer 10

surgery

growth hormonal therapy

Question 11

what are connective tissue disorders?

Answer 11

disorders of collagen synthesis resulting in joint hypermobility

Question 12

what are four connective tissue disorders associated with childhood?

Answer 12

1. generalised joint laxity (double-jointed)
2. Marfan’s syndrome
3. Ehlers-Danlos syndrome (EDS)
4. Down’s syndrome

Question 13

what is the inheritance of generalised joint laxity?

Answer 13

AD

Question 14

what is the cause of Marfan’s syndrome?

Answer 14

AD mutation in fibrillin gene

Question 15

presentation of Marfan’s syndrome

Answer 15

tall stature
disproportionality long limbs
ligamentous laxity

Question 16

what causes EDS?

Answer 16

AD inheritance of abnormal elastin and collagen formation

Question 17

presentation of EDS

Answer 17

joint hyper-mobility
vascular fragility
scoliosis

Question 18

presentation of Down’s syndrome

Answer 18

short stature

joint laxity- recurrent dislocations

Question 19

what are muscular dystrophies?

Answer 19

X-linked recessive disorders resulting in muscle weakness

Question 20

who does X-linked diseases affect?

Answer 20

boys only

Question 21

two muscular dystrophies that present in childhood

Answer 21

1. Duchenne’s

2. Becker’s

Question 22

cause of Duchenne’s

Answer 22

X-linked recessive defect in dystrophin gene involving Ca2+ transport

Question 23

presentation of Duchenne’s

Answer 23

muscle weakness
gower’s sign
wheelchair bound
death in 20s due to involvement of cardiopulmonary muscles

Question 24

diagnosis of Duchenne’s

Answer 24

clinical
high CK
muscle biopsy

Question 25

presentation of Becker’s

Answer 25

reduced walking

30-40s premature death

Question 26

what do both Duchenne’s and Becker’s present with?

Answer 26

swollen, “woody” calves

Question 27

presentation of myotonic dystrophy

Answer 27

hatchet-like face

common onset around 40