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Paediatrics cabinetchip > congenital abnormalities > Flashcards

congenital abnormalities Flashcards

1
Q

when is an antenatal screen for congential abnromalites done

A

18-20 weeks using US

-note not all will be evident antenatlly

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2
Q

otherwise to detec cogenital abnormalites 3

A

Immediately after birth

Routine newborn examination

Later in life due to abnormal growth or development

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3
Q

how can congenital abnormalities be split 5

A

Isolated or multiple structure abnormalities

Due to chromosomal abnormalities

Secondary to intrauterine infection

Due to teratogens

Associated with other syndromes

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4
Q

prophylaxis for neural tube defects 1

A

Folic acid supplementation maternally

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5
Q

define anecephaly

A

large portion of scalp skull and cerebal hemisphers do not devleop - caused by defect in closure of neural tube

-usually detected anetnatlly

-always fatal

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6
Q

define encephalocele

A

neural tube defect

protrusion of brain and menigens through midline defect in skulll

-usuallly assocated craniofacial abnormalities and/or other cerebral abnromalties

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7
Q

define microcephaly

A

small head due to incomplerte brain development
or arrest of brain growth

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8
Q

when cna microcephaly develop

A

present at birth or can develop over first few years of life

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9
Q

causes of microcephaly 4

A

genetic aeitiology

-TORCH infections -toxoplasmosis, others (syphilis, hepatitis B), rubella, cytomegalovirus, herpes simplex.

-maternal substance abuse

-perinatal hypoxia

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10
Q

define TORCH infection and what it stands for 5

A

also called TORCH syndrome - cause congenital abnormalities if exposed to them during pregnancy

TORCH” is an acronym meaning (T)oxoplasmosis, (O)ther Agents, (R)ubella (also known as German Measles), (C)ytomegalovirus, and (H)erpes Simplex.

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11
Q

symptoms of microcephaly 4

A

depend on severity

-OFC- occipito-frontal circumference crossing centiles

-shallow sloping forehead

-developmental delay

-seizures and short stature

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12
Q

describe disorders of neuronal migration

A

Spectrum from minor, clinically nonsignificant abnormalities to devastating brain malformations e.g. lissencephaly,
holoprosencephaly, schizencephaly, and porencephaly. May result in learning
difficulties, developmental delay, and seizures, depending on severity of
malformation. Some result in intrauterine death.

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13
Q

define sacral pit

A

dimple or indentation over sacrum

-usually benign

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14
Q

how to differentiate sacral pits

A

if base seen or below natal cleft - harmless

-if base not visible or above natal cleft
-may indicate spina bifida occulta and needs imaging

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15
Q

Pathophysiology of cleft lip and palate

A

Failure of fusion of maxillary processes

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16
Q

how can cleft lip and palate affect someone

A

can be unilateral or bilateral and involve lip and or the palate

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17
Q

management of cleft lip and palate 3

A

Immediately refer to cleft lip and palate MDT

lip repaired at three months

Palate repaired at 6 to 12 months

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18
Q

complications of cleft lip and palate 3

A

Can interfere with feeding and lead to speech problems

Psychological issues

Aspiration pneumonia

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19
Q

define preauricular pits

A

dimple or indentation and skin anterior to the tragus

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20
Q

what can preauricular pits be associated with 1

A

Weakly associated with renal abnormalities

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21
Q

When would you scan someone with preauricular pits 3

A

other dysmorphisms

maternal diabetes

Family history of deafness

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22
Q

define tracheo-oesophageal fistula

A

Communication between trachea and oesophagus

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23
Q

what is tracheoesophageal fistula associated with 1

A

Oesophageal atresia (this is often associatesd with other syndrome

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24
Q

how to diagnose tracheoesophageal fistula 2

A

Bronchoscopy

contrast studies of the oesophagus

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25
Q

management of tracheo-oesophageal fistula 1

A

Surgical correction is required

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26
Q

What is duodenal atresia often associated with 1

A

Children with Down syndrome

this is present in one third of these patients

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27
Q

how is duodenal atresia diagnosed and what sign as seen

A

Diagnosed with abdominal x-ray

Double bubble sign is seen

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28
Q

management (1) and prognosis of duodenal atresia

A

Surgical correction and prognosis is excellent

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29
Q

define exomphalos/omphalocoele

A

Hernia into the base of the umbilical cord covered by sac

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30
Q

what is exomphalos/omphalocoele often associated with 3

A

Down syndrome

Edwards syndrome

Cardiac defects

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31
Q

managment of exomphalos/omphalocoele and imporrtant point 1

A

Surgical repair

-NEEDS to be done in stages as abdomen often too small to hold the bowel

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32
Q

when is gastroschisis detected

A

usually at antenatal ultrasound

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33
Q

define gastroschisis

A

Defect in abdomen to the right of the umbilicus Protrusion of abdominal content not covered by a sac

-bowel often in poor condition, may need to be resected as part of surgical repair

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34
Q

managemnt of gastroschisis

A

surgery again needs to be done in stages as abdo to soft to hold bowel

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35
Q

define hypospadias

A

Urethral opening on underside of penis

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36
Q

where does hypospadias usually affect location wise

A

Usually on or at the base of the glans

But can be further down the shaft or on the scrotum

37
Q

managemtn of hypospadias 1

what must parents do 1

A

surigcal repair at 12-18 months

not have their son circumcised as the foreskin is often used in repair

38
Q

how does imperforate anus present 3

A

Failure to pass meconium

Bilious vomiting

Abdominal distension

39
Q

how can imperforate anus be classfied 2

-how does this alter prognosis

A

low or high

low defects have better prognosis for continence

40
Q

where do 90% of diaphragmatic hernias occur

A

on the left side

41
Q

when can diaphragmatic hernias be detected 2

A

antenatal ultrasound

or at birth

42
Q

how do diaphragmatic hernias present at birth 3

*-unknown cause

A

Scaphoid abdomen

Apparent dextrocardia

Respiratory distress at birth

43
Q

what is the major problem with diaphragmatic hernias after surgical repair

A

pulmonary hypoplasia on affected side

44
Q

what is the most common type of dwarfism

A

achondroplasia

45
Q

What does achondroplasia affect

A

it is a disorder of bone growth

46
Q

inheritance pattern of achondroplasia

A

autosomal dominant

47
Q

what genes can be affectted in achondroplasia

A

gene on Chromosome 4p16

MOST - are spontaneous mutations

48
Q

presentation of achondroplasia at birth 4

A

Short limbs

Large head with a flat midface and frontal bossing

Lumber lordosis

trident hand (persistent space between middle and ring fingers)

49
Q

complications of achondroplasia 3

A

short stature

talipes equinovarus (club foot)

hydrocephalus

50
Q

overview of polydactyly

A

More than five fingers or toes on any limb

Can be isolated associated with other abnormalities

refer to plastics

51
Q

overview of syndactyly

A

Webbed fingers or toes

most commonly occurs between the second and third toes

Can often be familial

Refer to plastics

52
Q

main risk factor for downs syndorme

A

risk increases wiht parental age

53
Q

mechanisms involved in downs syndrome 3

A

non-disjunction (>90%)

translocation (5%)

mosaicism (1%)

54
Q

blood tests fo downs syndorme 2

when are they completed

A

first trimester

BEta-hCG (raised in downs)

PAPP-A (low in downs)

55
Q

what are bkloods tests used in conjucntion with to calculate risk of baby developing dwons syndomre

A

Age of parents

56
Q

regarding imaging- what else is used to assess risk of Down’s syndrome 1

A

raised foetal nuchal transluceny at first scan

57
Q

if a mother is screened psotive for downs syndrome what is she offered

A

chorionic villus sampling or amniocentesis

58
Q

risks of miscarriage with amniocentesis
-when is it done

A

1%

15-20wks

59
Q

risk of miscarriage with chornic villous sampling
-when is it done

A

1.5%

11-14wks

60
Q

five facial appearances signs of downs

A

Prominent epicanthic folds

Upward slanting palpebral fissures

Brushfield spots on Iris (white spots)

Protruding tongue with small mouth

Small Chin Flatnose round face and small low set ears

61
Q

most common congenital heart defect in downs

A

atrioventricular septal defect

62
Q

Second most common congenital heart defect in downs

A

ventricular spetal defect

63
Q

what are all children with Down syndrome offered after birth regarding congential heart defects 1

A

Echocardiogram

64
Q

what other congenital heart defect is relatively common in downs 1

A

Tetralogy of fallot

65
Q

five gastrointestinal defects that have an increased incidence/risk in downs

A

Hirschsprung’s disease

Duodenal atresia and imperforate anus

Umbilical hernias

GORD

Coeliac disease

66
Q

five characteristics of downs on physical examination

A

Generalised hypotonia

Shortneck with excessive skin at nape

Brachycephaly (shortened AP skull length)

Single Palmer crease short hands and fingers and a sandal toe gap in feet

poor growth and short stature

67
Q

Five neurological complications of down syndrome

A

Learning difficulties

Hearing impairment (recurrent otitis media)

strabismus (cross eyed), catarcts (REQUIRE REG VISION AND HEARING CHECKS)

Increased incidence of epilepsy

Atlantoaxial instability ( condition that affects the bones in the upper spine or neck under the base of the skull. The joint between the upper spine and base of the skull is called the atlanto-axial joint. In people with Down syndrome, the ligaments (connections between muscles) are “lax” or floppy)
-CAN CAUSE SPINAL CORD COMPRESSION

68
Q

other complications of down syndrome 5

A

Significantly increase risk of acute myeloid leukaemia and acute lymphoblastic leukaemia

Hypothyroidism need annual TFTs

Recurrent respiratory infections

Obstructive sleep apnoea

Alzheimer’s disease

69
Q

What trisomy is found an Edward syndrome

A

18

70
Q

five features of Edward syndrome

A

Microcephaly small Chin

Low-set ears

Overlapping fingers

Rocker bottom feet

Congenital cardiac defects e.g. VSD, ASD, PDA

71
Q

What trisomy is found in patau syndrome

A

13

72
Q

Five features of patau syndrome

A

Holoprosencephaly - disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double lobes of the cerebral hemispheres.

Structural eye defects

polydactyly

Cutis aplasia skin defects

Cardiac and renal defects

73
Q

Genetic change in turner syndrome

A

45XO -female missing X chromosome

74
Q

five features of turner syndrome

A

Downward turned mouth downward slanting palpebral fissures

Web neck wide space nipples lymphoedema

  1. Coarctation of aorta +bicuspid artoic valve (aortic stenosis)
  2. Streak gonads, lack of secondary sexual development
  3. Short stature
75
Q

genetic change in Klinefelter syndrome

A

XXY

76
Q

five features of Klinefelter syndrome

A
  1. Infertility
  2. Hypogonadism, microorchidism.
  3. Gynaecomastia
  4. Tall stature
  5. Intelligence from normal to moderate learning difficulties.
77
Q

five features of fragile x syndrome (X-linked dominnat)

A
  1. Long face, prominent ears, large chin.
  2. Learning difficulty.
  3. Macroorchidism
  4. Connective tissue problems such as flat feet, hyperflexible joints
  5. Behavioural characteristics, autistic behaviours, hand flapping, ADD.
78
Q

of the TORCH intrauterine infections - which are most common 2

A

rubella

toxoplasmosis

79
Q

Five features of congenital cytomegalovirus infection

A
  1. Low birth weight, microcephaly, cerebral calcification.
  2. Hepatosplenomegaly with jaundice
  3. Petechiae
  4. Treatment gancyclovir
  5. At risk for hearing loss, mental retardation, psychomotor delay, cerebral palsy, and
    impaired vision
80
Q

five features of congenital rubella syndrome

A
  1. Cataracts, microphthalmos
  2. Sensorineural hearing loss
  3. Thrombocytopenic purpura “Blueberry muffin rash”
  4. Cardiac: pulmonary artery stenosis or patent ductus arteriosus.
  5. Hepatomegaly
81
Q

five features of congenital toxoplasmosis

A
  1. Hydrocephalus/ or microcephaly
  2. Chorioretinitis
  3. Cerebral calcification
  4. Cerebral palsy
  5. Epilepsy
82
Q

five features of fetal alcohol syndrome

A
  1. Microcephaly
  2. Facial features: epicanthic folds, low nasal bridge, absent philtrum, thin upper lip,
    and small chin
  3. Cardiac defects, VSD, ASD
  4. Growth retardation, limb abnormalities
  5. Learning difficulties and behavioural problems
83
Q

name five teratogenic drugs in pregnancy

A

phenytoin

Sodium valproate/carbamazepine

lithium

Warfarin

Tetracycline

84
Q

features of phenytoin terotogenecy in pregnancy 4

A

cleft lip/ palate

Cardiac defects

Hypoplastic nails

Craniofacial abnormalities

85
Q

features of sodium valproate/carbamazepine terotogenecy in pregnancy 1

A

Neural tube defects

86
Q

features of lithium terotogenecy in pregnancy 1

A

Ebstein’s anomaly - tricuspid valve is in the wrong position and the valve’s flaps (leaflets) are malformed.

87
Q

features of warfarin terotogenecy in pregnancy 5

A

Frontal bossing

Cardiac defects

Microcephaly

Nasal hypoplasia

Epiphyseal Stippling

88
Q

features of tertracycline terotogenecy in pregnancy 1

A

Discolouration of teeth

89
Q

Five features of Prader Willi syndrome

A
  1. At birth - hypotonia, feeding problems, hypogonadism
  2. Later failure to thrive, scoliosis
  3. Hyperphagia and obesity
  4. Developmental delay and learning difficulties
  5. Physical appearance: almond shaped eyes, pale skin and light hair, small hands
    and feet with hypogonadism

Paediatrics cabinetchip (80 decks)

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