Case 16 - dysmorphic features Flashcards
(19 cards)
Typical dysmorphic features of down syndrome
- Round face
- Flat nasal bridge
- Small mouth
- Protruding tongue
- Low set ears
- Prominent epicanthic folds
- Single palmaer crease
- Clinodactaly - incurved little finger
- Wide sandal gap between toes
What is trisomy 13?
Patau syndrome:
* Structural defects of brain
* Small eyes
* Other eye defects
* Cleft lip and palate
* Polydactyly
* Cardiac abnormalities
* Renal abnormalities
What is trisomy 18?
Edwards syndrome:
* Low birth weight
* Prominent occiput
* Small mouth and chin
* Flexed overlapping fingers
* Rocker bottom feet
* Cardiac and renal abnormalities
How does trisomy 21 occur?
Extra chromosome 21:
* Non-disjunction - non dysjunction at meoisis
* Robertsonian translocation - Portion of one chromosone attaches to another
* Mosaicism
Risk factors for a child with down syndrome
- Parent with translocation of chromosome 14 and 21
- Advancing maternal age
- Already has child with down syndrome
Investigations that should be completed for a child with down sydnrome prior to discharge
- FBC - more likely to have haem abnormalities eg low plt, high neuts, polycythaemia
- Hearing screen - 4-5 weeks for all newborns but earlier is done due to potential structural causes
- Thyroid function tests - 1/5 hypothyroidism if DS
- Echo - risk factor for CHD
Which structural cardiac abnormality is most common in down syndrome?
Complete atrioventricular septal defect
Presentation of complete AVSD
Signs of heart failure eg
* Shortness of breath
* Wheeze
* Developmental delay
* Cyanosis - especially when crying or feeding
= need surgery before 6 months
What is most likely diagnosis of passage of meconium after 48hrs, distended abdomen and billious vomitting?
Hirschsprungs disease - absence of ganglion cells that innervate GI tract, begins at internal anal sphincter and extends proximally
GI abnormalities associated with DS
- Duodenal atresia
- Hirschsprungs
Typical presentation of intussusception
- Between 3 months and 3 yrs
- Telescoping of proximal bowel into more distal portion
- Can be associated with GI/resp infection - swollen peyers patches can encourgae telescoping
What is meconium ileus?
- Obstruction of distal ileum by abnormally thick meconium
- Associated with cystic fibrosis
Presentation of pyloric stenosis
- Later in life - not newborn
- Non-billious vomitting
- May see visible perstalsis
- No distension
4 year old child with down syndrome presents with neck swelling, pallor, fatigue and bruising easily - what is it?
- Acute lymphoblastic leukaemia
- Children with DS have higher risk of developing haem malignancies
- Before 3 yrs - AML more common
- After 3 - ALL
- Need blood films/bone marrow biopsies to see which
Later medical problems associated with down syndrome
- Delayed motor milestones
- Learning difficulties - vary severity
- Hearing impairment - secretory otitis media
- Visual impairment - cataracts, squint, myopia
- Early Alzheimers
- Epilepsy
- Infection
- Coeliac
- Hypothyroidism
- Hip dislocation and atlantoaxial instability
- Short
- OSA
Clinical features of turners syndrome
- Single X chromsome - 45 XO
- Short
- Webbed neck
- High arched palate
- Downward sloping eyes + ptosis
- Broad chest + widely spaced nipples
- Cubitus valgus - arm extended, angle of forarm is exaggerated
- Underdeveloped ovaries with reduced function
- Late/incomplete puberty
- Women infertile
Management of turner sydnrome
- GH therapy
- Oestrogen and progesterone - secondary characteristics, regulate cycle, prevent OP
- Fertility treatment for pregnancy
Management of down syndrome
- MDT - list optician, audiologists, ENT, cardiologist etc
- Regular thyroid checks
- Echo for cardiac defects
- Regular audiometry
- Regular eye checks
