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Toni's Paeds > Genetic Disease + Congenital Abnormality > Flashcards

Genetic Disease + Congenital Abnormality Flashcards

1
Q

Features of Trisomy 21

A 
Down's
flat occiput
single palmar creases
incurved fifth finger 
wide ‘sandal’ gap between the big and second toe 
short neck
hypotonia
epicanthic folds
small ears, small mouth, protruding tongue
Brushfield spots: White spots on iris
Excessive joint laxity
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2
Q

Areas to examine in newborn with suspected Down’s

A

Eyes: cataracts, glaucoma
GI tract:
Heart:

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3
Q

How does trisomy 21 occur

A

94% non dysjunction in meiosis = gamete with 2x Chr21
5% Robertsonian translocation
1% mosaicism

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4
Q

Health problems with Down’s syndrome

A

Hirschsprung’s + Duodenal atresia
Congenital cardiac abnormalities: VSD, AVSD
T1DM
GORD
Atlanto-axial instability
Increased susceptibility to infections
Incr risk leukaemia
Incr risk epilepsy + Parkinson’s (esp early onset), hypothyroidism
Hearing impairment following chronic infections
Visual impairment due to cataracts
Sev-mod learning ?, delayed motor development
Hypothyroidism

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5
Q

45XO

A

Turners syndrome
At birth: lymphoedema, coarctation, aortic stenosis
Short stature, delayed puberty, thyroid disorders
Horseshoe kidney
Coeliac disease

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6
Q

47 XXY

A

Klinefelter’s syndrome
Tall stature
Delayed puberty
Gynaecomastia

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7
Q

Prader Willi

A

Imprinting: loss of paternal Chr 15
Almond shaped eyes, narrow forehead, carp shaped mouth
Cryptorchidism
Genital hypoplasia
Strabismus
Hypotonia and poor feeding initially, later obesity due to hyperphagia
Low IQ

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8
Q

Di George’s

A 
Microdeletion - FISH diagnosis 22q 11.2
Cleft palate
Thymic hypoplasia
Hypocalcaemia
Aortic arch abnormalities
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9
Q

William’s

A

Microdeletion

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10
Q

Trisomy 13

A

Patau’s

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11
Q

Trisomy 18

A

Edward’s

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12
Q

Duchenne’s muscular dystrophy

A 
X linked - dystrophin gene
30% de novo mutation
Most common
Delayed walking
Gower's sign
Pseudo hypertrophy of calves
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13
Q

Fragile X

A

X linked recessive
Multiple CGG trinucleotide repeats on X Chr
Female carriers: mild learning disability
Affected males: mod learning disability avg IQ50, macrocephaly, macro-orchid ism, large ears, long face, prominent mandible + forehead

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14
Q

Galactosaemia

A

Deficiency in galactose-1-phosphate uridyl transferase
Vomiting
Cataracts
Recurrent E.coli sepsis

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15
Q

PKU

A

AR = defective phenylalanine hydroxylase
Accumulation of phenylalanine -> phenylketones
Developmental delay + learning difficulties
Musty smelling urine
Seizures, microcephaly
Screened in Guthrie, newborn blood spot
Req phenylalanine free diet for life

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16
Q

Marfan’s syndrome

A

AD - fibrillin gene
Musculoskeletal
Ocular
Cardiac

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17
Q

Becker’s muscular dystrophy

A

X linked - dystrophin gene
Less severe than duchenne
Muscle weakness
Delayed motor milestones

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18
Q

Homocysteinuria

A

AR

Thromboembolic tendency

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19
Q

Myotonic dystrophy

A

AD

Hypotonia from birth

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20
Q

Myasthenia Gravis

A

Delayed walking

Fatigueability

21
Q

CAH

A

Unable to metabolise testosterone to produce cortisol
Masculinised female genitali/ abnormal male genitalia
Salt losing crisis: low glucose + vomiting
Replace glucose and steroids

22
Q

Noonan’s

A 
Male + female affected
Developmental delay
Happy demeanour
Aortic stenosis 
Poor feeding and weight loss as neonate
Overeating and obesity later
23
Q

VACTERL

A 
Vertebral
Anal imperforation
Cardiac
Tracheo-oesophageal fistula
Limb abnormalities
24
Q

CHARGE

A 
Coloboma
Heart defects
Atresia choanae
Retardation of growth + dev
GU abnormalities
Ear abnormalities
25
Q

Tetralogy of Fallot

A 
VSD
Right ventricular hypertrophy + outflow tract obstruction
Overriding aorta
Presents ~ 6 months 
Cyanotic spells
26
Q

Gastroschisis

A 
Herniation of bowel through anterior abdominal wall
Not covered with membrane 
Not associated with other abnormalities
Fluid, electrolyte + heat losses
Dehydration, hyponatraemia, hypothermia
27
Q

Asymmetrical IUGR

A

Late pregnancy insult:

GDM, pre-eclampsia,

28
Q

Symmetrical IUGR

A

Early pregnancy insult (from 1st trimester)
Chromosomal anomaly
Maternal smoking/alcohol use
Congenital infection

29
Q

Wiskott-Aldrich

A 
X linked - WASp gene actin affected
Eczema
Thrombocytopenia
Recurrent infection
(Petechiae, bruising)
30
Q

NBSS: newborn blood spot screening

Aka Guthrie card

A

Congenital Hypothyroidism
PKU
CF
(SCD + thalassemia)

31
Q

Features of CHT: congenital hypothyroidism

A

Hypotonia

Coarse facies

32
Q

Features of fetal alcohol syndrome

A

Thin top lip
Short nose
Small eyes + hypertelorism (incr distance betw eyes)

33
Q

Causes of cerebral palsy

A

Permanent non-progressive lesion in the developing brain
Prenatal:
Delivery:
Post natal:

34
Q

General features of cerebral palsy

A

Abnormal tone in first yr of life: initially hypotonic -> spasticity
Delay in gross motor development/ abnormal movements
Primitive reflexes persist longer than usual: Moro + grasp
Assoc issues: learning difficulties, epilepsy, visual impairment, hearing loss, speech disorders, behavioural disorders, resp problems

35
Q

Spastic cerebral palsy

A

70%
Hemiplegic
Diplegic
Quadriplegic

36
Q

Less common types of cerebral palsy

A

Ataxic:
Dyskinetic:
Mixed:

37
Q

Osteogenesis Imperfecta type 1

A

AD
Bony fragility = recurrent fractures + deformity
Wormian bones on skull X Ray: irreg isolated bones
Blue sclerae
Conductive hearing loss: 50%
Aortic valve regurg: diastolic murmur

38
Q

What is Gastroschisis?

A

Defect in ant abdo wall adjacent to umbilicus
Abdo contents can herniated through the defect
No sac covering contents
Immed management = cover exposed viscera
Surgical repair
Rarely assoc with any other congenital malformation

39
Q

What is exomphalos?

A

Herniation of the abdominal contents through the umbilicus
Herniated viscera are surrounded by sac: amnion = omphalocele
Surgical closure required
50% assoc with other congenital malformations

40
Q

What is Meckel’s diverticulum?

A

Congenital diverticulum with gastric type mucosa
A true diverticula it incorporates all layers of the wall from which it arises
2 feet proximal to ileocaecal junction
2 inches in length, 2% of population
Painless rectal bleeding
Susceptible to peptic ulceration
Dx confirmed by technetium99m scan as only taken up by gastric type mucosa
Resection may be required

41
Q

Developmental dysplasia of the hip

A

Ranges from partial subluxation to frank dislocation
6x more common in female infants
L hip > R hip
RF: +ve fhx, breech delivery, spinal/neuromusc abnormalities, oligohydramnios

42
Q

How is DDH identified?

A 
Neonatal screening using Barlow + Ortolani's tests 
At birth
At 6 wks
Good +ve predictive value
Poor -ve predictive value
43
Q

Late presentation of DDH

A

Asymmetrical skin folds
Limited abduction
Shortening of affected limb + limp

44
Q

How is DDH managed?

A

Conservative: for several months
abduction in Craig’s splint / restraining device Pavlik harness
Monitor progress on USS or X-ray
Failure of conservative methods -> open reduction + femoral osteotomy
Complication: necrosis of femoral head

45
Q

Talipes equinovarus

Aka clubfoot

A

Foot inverted + plantar flexed
1/500 births 50% bilat
Causes: secondary to intrauterine pressure e.g. Oligohydramnios, or neuromusc disorder e.g. Spina bifida

46
Q

Management of talipes equinovarus

A

Passive stretching + strapping

Severe deformity may require corrective surgery

47
Q

William’s syndrome

A

AD microdeletion 7q11
Short stature
Elf-like faces, transient hypercalcaemia, supra valvular aortic stenosis
Mild-moderate learning disability

48
Q

Cri du chat

A

Microdeletion

Toni's Paeds (16 decks)

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