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congenital abnormalities Flashcards

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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
management of tracheo-oesophageal fistula 1
Surgical correction is required
26
What is duodenal atresia often associated with 1
Children with Down syndrome this is present in one third of these patients
27
how is duodenal atresia diagnosed and what sign as seen
Diagnosed with abdominal x-ray Double bubble sign is seen
28
management (1) and prognosis of duodenal atresia
Surgical correction and prognosis is excellent
29
define exomphalos/omphalocoele
Hernia into the base of the umbilical cord covered by sac
30
what is exomphalos/omphalocoele often associated with 3
Down syndrome Edwards syndrome Cardiac defects
31
managment of exomphalos/omphalocoele and imporrtant point 1
Surgical repair -NEEDS to be done in stages as abdomen often too small to hold the bowel
32
when is gastroschisis detected
usually at antenatal ultrasound
33
define gastroschisis
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
34
managemnt of gastroschisis
surgery again needs to be done in stages as abdo to soft to hold bowel
35
define hypospadias
Urethral opening on underside of penis
36
where does hypospadias usually affect location wise
Usually on or at the base of the glans But can be further down the shaft or on the scrotum
37
managemtn of hypospadias 1 what must parents do 1
surigcal repair at 12-18 months not have their son circumcised as the foreskin is often used in repair
38
how does imperforate anus present 3
Failure to pass meconium Bilious vomiting Abdominal distension
39
how can imperforate anus be classfied 2 -how does this alter prognosis
low or high low defects have better prognosis for continence
40
where do 90% of diaphragmatic hernias occur
on the left side
41
when can diaphragmatic hernias be detected 2
antenatal ultrasound or at birth
42
how do diaphragmatic hernias present at birth 3 *-unknown cause
Scaphoid abdomen Apparent dextrocardia Respiratory distress at birth
43
what is the major problem with diaphragmatic hernias after surgical repair
pulmonary hypoplasia on affected side
44
what is the most common type of dwarfism
achondroplasia
45
What does achondroplasia affect
it is a disorder of bone growth
46
inheritance pattern of achondroplasia
autosomal dominant
47
what genes can be affectted in achondroplasia
gene on Chromosome 4p16 MOST - are spontaneous mutations
48
presentation of achondroplasia at birth 4
Short limbs Large head with a flat midface and frontal bossing Lumber lordosis trident hand (persistent space between middle and ring fingers)
49
complications of achondroplasia 3
short stature talipes equinovarus (club foot) hydrocephalus
50
overview of polydactyly
More than five fingers or toes on any limb Can be isolated associated with other abnormalities refer to plastics
51
overview of syndactyly
Webbed fingers or toes most commonly occurs between the second and third toes Can often be familial Refer to plastics
52
main risk factor for downs syndorme
risk increases wiht parental age
53
mechanisms involved in downs syndrome 3
non-disjunction (>90%) translocation (5%) mosaicism (1%)
54
blood tests fo downs syndorme 2 when are they completed
first trimester BEta-hCG (raised in downs) PAPP-A (low in downs)
55
what are bkloods tests used in conjucntion with to calculate risk of baby developing dwons syndomre
Age of parents
56
regarding imaging- what else is used to assess risk of Down's syndrome 1
raised foetal nuchal transluceny at first scan
57
if a mother is screened psotive for downs syndrome what is she offered
chorionic villus sampling or amniocentesis
58
risks of miscarriage with amniocentesis -when is it done
1% 15-20wks
59
risk of miscarriage with chornic villous sampling -when is it done
1.5% 11-14wks
60
five facial appearances signs of downs
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
most common congenital heart defect in downs
atrioventricular septal defect
62
Second most common congenital heart defect in downs
ventricular spetal defect
63
what are all children with Down syndrome offered after birth regarding congential heart defects 1
Echocardiogram
64
what other congenital heart defect is relatively common in downs 1
Tetralogy of fallot
65
five gastrointestinal defects that have an increased incidence/risk in downs
Hirschsprung's disease Duodenal atresia and imperforate anus Umbilical hernias GORD Coeliac disease
66
five characteristics of downs on physical examination
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
Five neurological complications of down syndrome
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
other complications of down syndrome 5
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
What trisomy is found an Edward syndrome
18
70
five features of Edward syndrome
Microcephaly small Chin Low-set ears Overlapping fingers Rocker bottom feet Congenital cardiac defects e.g. VSD, ASD, PDA
71
What trisomy is found in patau syndrome
13
72
Five features of patau syndrome
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
Genetic change in turner syndrome
45XO -female missing X chromosome
74
five features of turner syndrome
Downward turned mouth downward slanting palpebral fissures Web neck wide space nipples lymphoedema 3. Coarctation of aorta +bicuspid artoic valve (aortic stenosis) 4. Streak gonads, lack of secondary sexual development 5. Short stature
75
genetic change in Klinefelter syndrome
XXY
76
five features of Klinefelter syndrome
1. Infertility 2. Hypogonadism, microorchidism. 3. Gynaecomastia 4. Tall stature 5. Intelligence from normal to moderate learning difficulties.
77
five features of fragile x syndrome (X-linked dominnat)
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
of the TORCH intrauterine infections - which are most common 2
rubella toxoplasmosis
79
Five features of congenital cytomegalovirus infection
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
five features of congenital rubella syndrome
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
five features of congenital toxoplasmosis
1. Hydrocephalus/ or microcephaly 2. Chorioretinitis 3. Cerebral calcification 4. Cerebral palsy 5. Epilepsy
82
five features of fetal alcohol syndrome
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
name five teratogenic drugs in pregnancy
phenytoin Sodium valproate/carbamazepine lithium Warfarin Tetracycline
84
features of phenytoin terotogenecy in pregnancy 4
cleft lip/ palate Cardiac defects Hypoplastic nails Craniofacial abnormalities
85
features of sodium valproate/carbamazepine terotogenecy in pregnancy 1
Neural tube defects
86
features of lithium terotogenecy in pregnancy 1
Ebstein's anomaly - tricuspid valve is in the wrong position and the valve's flaps (leaflets) are malformed.
87
features of warfarin terotogenecy in pregnancy 5
Frontal bossing Cardiac defects Microcephaly Nasal hypoplasia Epiphyseal Stippling
88
features of tertracycline terotogenecy in pregnancy 1
Discolouration of teeth
89
Five features of Prader Willi syndrome
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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