Congenital Syndromes

Question 1

Feature of DiGeorge Syndrome

Answer 1

CATCH 22:
Cardiac (Tet, Truncus arteriosus, incomplete aortic arch)
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcaemia
22 (chromosome 22q11.2 deletion)

Question 2

Dysmorphic features of Trisomy 21

Answer 2

• stunted growth
• hypotonia
• slanted eyes
• epicanthal folds
• flattened nose
• flat head
• single (simian) palmar crease
• sandal sign (separation of 1st and 2nd toe
• bent fifth fingertip

Question 3

Signs and associated medical conditions of Trisomy 21

Answer 3

Cardiac (AVSD, ASD, VSD)
GIT (Hirschsprungs, Intestinal atresia, coeliac)
Opthal (cataracts, strabismus)
Neuro (atlantoaxial instability)
Haem (leukaemia)
Intellectual disability (and early Alzheimers)
Poor hearing (recurrent otitis media)
Thyroid dysfunction (hypo and hyper)
Developmental delay

Question 4

What are the first trimester screening components?

and findings in Trisomy 21

Answer 4

• B-hCG (high)
• PAPP-a (low)
• Ultrasound (enlarged ventricles and nuchal height >3.5mm)

Question 5

What are the second trimester screening components? (and findings in Trisomy 21)

Answer 5

• B-hCG and inhibin- A (raised)

- alphafetoprotein and oestriol (low)

Question 6

• What are the definitive Dx tests of Trisomy 21?

- At what stage do you perform them and what is the risk of miscarriage?

Answer 6

CVS at 10-12 weeks (1%)

Amniocentesis at 15-20 weeks (0.5%)

Question 7

Outline the features of Turners Syndrome

Answer 7

45, X
short stature
lymphoedema of hands/feet in newborns
broad chest (shield chest)
webbed neck
Amenorrhoea & infertility
horseshoe kidney

Question 8

Management of Turners Syndrome

Answer 8

• Growth hormone replacement (for height and growth)
• Oestrogen replacement (for secondary sex dev. & prevent osteoporosis and cardiac dysfunction)
• IVF (varying success)
• surgery (webbed neck)

Question 9

Outline the features of Kleinefelters Syndrome

Answer 9

47, XXY
Physical (hypogonadism at puberty) - tall, weakness, less facial/body hair, gynaecomastia
Cognitive & behavioural - reading impairment, executive fn. deficits, motor dev. delay

Question 10

Management of Kleinefelters Syndrome

Answer 10

EARLY INTERVENTION KEY

• OT & behavioural therapy for language
• Testosterone replacement (masculine ft. & prevent osteoporosis)
• surgery (removal of breast tissue)

Question 11

Outline the features of Noonan Syndrome

Answer 11

Autosomal Dominant condition

• Cardiac anomalies common (PV Stenosis, ASD/VSD)
• FTT
• Short stature, webbed neck
• learning dificulties
• bleeding disorders (Factors def., Platelet dysfunction)
• Facial features:
• large head, broad forehead, epicanthal folds, ptosis

Question 12

Outline the features of Fragile X syndrome

Answer 12

(Disorder of FMR1 CGG trineucleotide repeat)
X-linked, dominant condition
-intellectual disability
-autism and ADHD are common behavioural Sx
-sterotypic features (e.g hand flapping)
-social anxiety
-seizures common
-facial features: large protruding ears, elongated face, high-arched palate

Question 13

Outline the features of Prader-Willi Syndrome

Answer 13

(Ch 15 dysfunction)
Main features: Hyperphagia, hypotonia, hypopigmentation, obesity
- facial features: thin upper lip, almond-shaped eyes
-short stature
-speech delay
-infertility, hypogonadism

Question 14

Management of Prader-Willi Syndrome

Answer 14

• RESTRICT ACCESS TO FOOD!
• Early intervention: growth hormone and physio/speech therapy
• OSA Mx in obese pts.

Question 15

Outline features of Beckwith-Wiedemann syndrome

Answer 15

(congenital overgrowth disorder, 3-4x higher in IVF babies)
Main features: macroglossia, macrosomia, midline abdo wall defects (exomphalos), neonatal hypoglycaemia
-INCREASED RISK OF CA: Wilms Tumour, neuroblastoma, hepatoblastoma

Question 16

Management of Beckwith-Wiedemann syndrome

Answer 16

• Treat neonatal hypoglycaemia (less than 5% of pts.)
• Surgical correction of abdo wall defects
• Macroglossia usually resolves with age OR surgical correction (? if affecting breathing or feeding?)