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Congenital Abnormalities Flashcards

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1
Q

At what points in a futus/baby development may a congenital abnormality become apparent?

A

Antenatally (either downs screening on 20 week scan)
Immediately at birth
At routine new born examination
Later in life due to abnormal growth or development

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2
Q

What are the 6 most common congenital abnormalities of the Central Nervous System?

A 
Anencephaly 
Encephalocele
Microcephaly
Disorders of Neuronal migration
Spina Bifida 
Sacral Pit
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3
Q

Describe the definition and features of Anencephaly

A

Lare proportion of scalp, skull and hemispheres not present. Usually detected antenatally. Always fatal. Caused by defect in neural tube closure .
Maternal pre-conception folic acid could prevent about 70% of neural tube defects.

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4
Q

Describe the features of encephalocele

A

neural tube defect where brain and meninges protrude through midline defect in skull. Associated with crania-facial abnormalities

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5
Q

Describe the definition and features of microcephaly

A

Small head due to incomplete brain development or arrest of growth. Present at birth or can’t develop within first few years of life. Occipital-frontal circumference will be in the lower centiles, usually causes developmental delays, seizures and short stature

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6
Q

What are the causes of microcephaly?

A

Usually genetic.
May be TORCH infections
Maternal substance abuse
perinatal hypoxia

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7
Q

Give 3 example of disorders of neuronal migration

A

Holoprosencephaly - forebrain fails to split into 2 hemispheres
Schizencephaly - abnormal clefts of grey matter line the ventricles
porencephaly - cysts or cavities within the cerebral hemispheres

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8
Q

in a neonate what is a sacral pit?

A

A dimple in skin over the sacrum. Usually benign. Harmless if skin at base of dimple or it is below natal cleft. imagine later on if worried

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9
Q

Give 3 common congenital abnormalities of ENT

A

Cleft lip or palate
Preauricular pits
Preauricular tags

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10
Q

Give 3 facts about pre auricular pits

A

A dimple anterioir to tragus
Loose association to renal disease
Only scanned if other abnormalities or FHx of deafness

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11
Q

what are pre auricular skin tags

A

totally benign

some parents worried about cosmetic

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12
Q

Give 5 significant congenital abnormalities of the gastrointestinal system

A 
Tracheo-oesophageal fistula 
Duodenal atresia
Exomphalos/omphalocele
gastroschisis
Imperforate anus
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13
Q

Describe 4 features of hypospadias

A

Urethral opening on ventral aspect of penis
usually near glans but can be anywhere on midline to scrotum
surgical repair done at 12-18 months
Not allowed to be circumcised

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14
Q

what is tracheo-oesophageal fistulas

A

communication between trachea and oesophagus

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15
Q

What congenital conditions is tracheo-oesophageal fistula associated with?

A

oespophageal fistual and many syndromes

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16
Q

How does trachea-oesophageal fistula present?

A

coughing
choking
poor feeding
chest infection

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17
Q

How is an trachea oesphageal fistula repaired?

A

surgically

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18
Q

How common is duodenal atresia?

A

1 in 5000 births

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19
Q

What common congenital condition is duodenal atresia associated with?

A

Downs Syndrome

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20
Q

What is the incidence of cleft lip and palate?

A

1 in 1000 live births

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21
Q

What is the congenital cause of cleft lip and palate?

A

failure of fusion of the maxillary process

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22
Q

How old will a child be when cleft lip is repairred?

A

3 months old

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23
Q

At what age would you repair a cleft palate?

A

6-12 months old

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24
Q

What complications can arise from a cleft lip or palate?

A

poor feeing
Speech problems
aspiration pneumonia

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25
How does duodenal atresia present?
Bilious green vomitting at birth
26
What is the classic sign seen on x-ray in duodenal atresia?
double bubble sign
27
What is Exomphalos
Hernia into the base of the base of the umbilical cord covered by a sac
28
What other malformations in exomphalos associated with?
trisomes 13 and 18 and cardiac defects
29
What is the treatment of exomphalos?
surgucal repairs. often done in stages are the abdomen is too small
30
What is the other name for exomphalos?
omphalocele
31
What is the incidence of gastroschisis?
1 in 3000 and is increasing
32
What is gastroschisis?
Defect in the abdomen to the right of the umbilical cord, similar to exomphalos but without a sac coveriing - meaning that there may need to be resection of the bowel on repair
33
What is the incidence of an imperforate anus?
1 in 5000 live births
34
What is the presentation of imperforate anus?
found on neonatal check, billions vomitting, abdominal distention
35
Where are diaphragmatic hernias most likely to occur?
90% are on the left side
36
What is a scaphoid abdomen and what neonatal condition are you most likely to find it in?
When there is a sunken concave appearance to abdomen most commonly found in diaphragmatic hernia
37
How will diaphragmatic hernia present?
at birth where neonate has spaced abdomen, apparent dexacardia and respiratory distress
38
Name 3 commonly seen congenital abnormalities of the musculoskeletal system
Achondroplasia Polydactyly Syndactyly
39
What is Achondroplasia?
a disorder of bone growth which causes the most common type of dwarfism
40
What are the genetic features of achondroplasia?
an autosomal dominant condition which is caused by mutation to Ch 4p16
41
What are the physical features of achondroplasia?
``` short limbs large head flat mid face frontal bossing lumbar lordosis trident hand ```
42
in achrondroplasia what is 'trident hand'
persistent space between middle and ring fingers
43
What is polydactyly
More than 5 fingers or toes on any limb
44
How is polydactyly treated?
refer to plastic surgeons for reapir
45
What is syndactyly?
Webbed fingers or toes
46
What is Trisomy 18?
Edwards syndrome
47
Give 5 features of Edwards syndrome
``` microcephaly low set ears small chin (micrognathia) overlapping fingers Rocker Bottom feet Cardiac - ASD VSD PDA ```
48
What is the medical term for congenital small chin?
micrognathia
49
What is trisomy 13 called?
Patau's Syndrome
50
Give 5 features of Patau's syndrome
``` Holoprosencephaly Structural eye defects polydactyly Cutis Aplasia Cardiac and renal defects ```
51
What is Turners Syndrome/?
45XO
52
Give 5 features of Turners syndrome
Webbed neck, short, wide nipples Downward turned mouth, downward slapping palpebral fissures Coarctation of aorta Streak gonads, lack of secondary sex features Normal intelligence
53
What is the chromosomal abnormality in Klinefelter's Syndrome
XXY
54
Give 5 features of Klinefelter's syndrome
``` infertility hypogonadism, microgonadism Gynaecomastia Tall stature Intelligence from normal to moderate LD ```
55
What is fragile X syndrome?
An X linked dominant condition causing learning difficulties
56
Give 5 features of fragile X syndrome
Long face, prominent ears, large chin Learning difficulty Connective tissue problems Autistic tendencies/ ADD
57
What are the 5 most common intrauterine infections?
``` Toxoplasmosis Other (syphilis) Rubella Cytomegalovirus Herpes Simplex Virus ```
58
Give 5 features of the neonate born with congenital cytomegalovirus infection
Low BW, microcephaly hepatomegaly with jaundice Petechiae
59
What is the treatment for congenital cytomegalovirus infection?
gangcyclovir
60
What are the complications which can arise form congenital cytomegalovirus infection
hearing loss Mental retardation psychomotor delay impaired vision
61
What is the characteristic rash found in congenital rubella infection?
blueberry muffin rash - thromocytopenic purpura
62
What are the problems which can present in a baby infected with congenital rubella?
``` micropthalmos catarcts hearing loss PDA hepatomegaly ```

Pediatrics (15 decks)

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