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Paediatrics > Congenital diseases > Flashcards

Congenital diseases Flashcards

1
Q

What chromosomal trisomy is seen in Patau syndrome?

A

Trisomy 13

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2
Q

What chromosomal trisomy is seen in Edwards syndrome?

A

Trisomy 18

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3
Q

A prominent occiput, low-set ears and clenched fists is associated with which trisomy?

A

Edwards syndrome

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4
Q

What are these?

A

Rocker-bottom feet

Seen in Edwards and Patau syndromes

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5
Q

Microcephaly, microphthalmia and polydactyly are characteristic of which trisomy?

A

Patau

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6
Q

{ } is a congenital GI disorder characterised by megacolon due to a lack of ganglion/enteric nervous plexuses as a result of failed neural crest cell migration

A

Hirschsprung disease

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7
Q

{ } is a trisomy disorder associated with duodenal atresia and Hirschprung disease

A

Down syndrome

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8
Q

{ } is a congenital duodenal malformation that results in early bilious vomiting and proximal stomach distention due to failure of the duodenum to recanalise

A

Duodenal atresia

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9
Q

The double bubble sign is characteristic of which condition?

A

Duodenal atresia/stenosis

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10
Q

What is the most common congenital anomaly of the GI tract?

A

Meckel diverticulum

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11
Q

{ } is a GI diverticulum that is 2 inches long and found 2 feet from the ileocecal valve in 2% of the population

A

Meckel diverticulum

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12
Q

What causes Meckel’s diverticulum?

A

Partial failure of the vitelline duct/omphaloenteric duct to obliterate

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13
Q

What is the most common cause of congenital adrenal hyperplasia in infants?

A

21ß-hydroxylase deficiency

Enzyme required for cortisol production

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14
Q

What is the main problem in children with a congenital diaphragmatic hernia?

A

Pulmonary hypoplasia

Compression by the herniated viscera prevents development of the heart and lungs

Confers a high mortality if present

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15
Q

What is the most common cause of nasal polyps in children?

A

CF

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16
Q

What is the VACTERL association?

A

A combination of congenital diseases associated with mesodermal defects

V - vertebral anomaly

A - anal atresia

C - cardiac anomaly

T - tracheosophageal fistula

E - esophageal atresia

R - renal anomaly

L - limb malformation

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17
Q

What is the function of CFTR proteins in sweat glands?

A

Reabsorption of Cl-

Decreased reabsorption → increased sweat chloride

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18
Q

What is the role of CFTR proteins in epithelial tissue?

A

Facilitate the diffusion of Cl- into secretions → water follows by osmosis

In CF secretions are thick and cannot be cleared

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19
Q

Why can CF cause diabetes?

A

Retention of digestive enzymes → destruction of islet cells

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20
Q

What is the most common cause of urinary obstruction in the newborn male?

A

Posterior urethral valves

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21
Q

What is the most common cause of vesicoureteral reflux?

A

Congenitally short ureter → inadequate closure of the uterovesicular junction

Often resolves with age as the ureter grows in length

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22
Q

Why do children with congenital adrenal hyperplasia have hyperandrogenism?

A

Impaired cortisol production → high ACTH → adrenal hyperplasia + increased androgen production

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23
Q

How does hyperandrogenism present in females with congenital adrenal hyperplasia?

A

Clitoral enlargement

Precocious puberty

Virilisation (male secondary sexual characteristics)

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24
Q

How does hyperandrogenism in males with congenital adrenal hyperplasia present?

A

Precocious puberty

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25
Q

Do children with 21ß-hydroxylase deficiency have low or high aldosterone?

A

Low

Hypotension, dizziness, salt-craving, weight loss, anorexia, dehydration

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26
Q

What is the genetic abnormality in fragile X syndrome (Martin-Bell syndrome)?

A

CGG trinuclotide expansion → altered expression of FMR1 gene (fragile X mental retardation 1 gene)

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27
Q

How is fragile X syndrome inherited?

A

X-linked dominant

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28
Q

What are the clinical features of fragile X syndrome?

A

X-tra large - big ears, testes, face (long)

Intellectual disability

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29
Q

Which gene is affected in muscular dystrophy?

A

Dystrophin gene

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30
Q

What are the two main forms of muscular dystrophy?

A

Duchenne

Becker

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31
Q

How are Duchenne and Becker muscular dystrophy inherited?

A

X-linked recessive

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32
Q

What are the clinical features of muscular dystrophy?

A

Paresis and atrophy starting in the proximal lower limbs, later spreading to the upper body and distal areas

Weak reflexes

Waddling gait

Calf pseudohypertrophy

Gower manoeuvre (uses hands to inch-worm into standing)

Dilated cardiomyopathy

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33
Q

What is the most common genetic mutation in CF?

A

ΔF508 (chromosome 7)

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34
Q

Which of the following is not a feature of congenital rubella syndrome?

  1. Cataracts
  2. Deafness
  3. Hepatomegaly
  4. Hydrops fetalis
  5. Thrombocytopenia
A

Hydrops fetalis

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35
Q

What is a cystic hygroma?

A

Lymph accumulation in the jugular lymphatic sacs due to obstruction in the foetal neck

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36
Q

When are cystic hygromas typically diagnosed?

A

1st trimester ultrasound

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37
Q

What is the clinical significance of a cystic hygroma?

A

Increased risk of foetal aneuploidy and structural malformations

Most resolve throughout pregnancy and neonates and phenotypically normal

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38
Q

What is this?

A

Branchial cleft cyst

Usually presents in late childhood or early adulthood when an unrecognised cyst becomes infected

Anterior to the SCM

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39
Q

What are the most common congenital heart defects found in Down Syndrome?

A

Atrioventricular septal defect (endocardial cushion defect) (40% of patients)

VSD (30% of patients)

ASD (15% of patients

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40
Q

What is a complete endocardial cushion defect?

A

ASD, VSD, common AV valve

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41
Q

What is a partial endocardial cushion defect?

A

ASD and minor atriventricular valve abnormalities

42
Q

What conditions are screened for in the newborn bloodspot screening test (NBST)?

A

Primary congenital hypothyroidism

Cystic fibrosis

Phenylketonuria (body cannot breakdown phenylalanine)

MCDA deficiency (body cannot breakdown fat)

Galactosaemia (body cannot process galactose)

43
Q

What are 4 of the neonatal features of down syndrome?

A

Flat facial profile

Slanted palpebral fissures

Anomalous ears

Hypotonia

Poor Moro reflex

Dysplasia of midphalanx of fifth finger

Transverse palmar (Simian) crease

Excessive skin at nape of the neck

Hyperflexibility of joints

Dysplasia of pelvis

44
Q

What condition is this?

A

Achondroplasia

45
Q

What is the pathophysiology of achondroplasia?

A

Mutation in fibroblast growth factor receptor 3 gene (FGFR3) → inhibited chondrocyte proliferation → reduced endochondral ossification (bone formation)

46
Q

Which TORCH infection is associated with microcephaly?

A

CMV

47
Q

What is the most common cardiac disorder associated with fetal alcohol syndrome?

A

VSD

48
Q

What facial abnormalities are associated with fetal alcohol syndrome?

A

Smooth philtrum

Thin upper lip

Small palpebral fissure

Hypertelorism (increased distance between eyes)

49
Q

What is this?

A

Mongolian spot

50
Q

How is hemophilia inherited?

A

X linked recessive

51
Q

Which chromosomal disorder is associated with coarctation of the aorta?

A

Turner syndrome

52
Q

Which chromosomal disorder is associated with a bicuspid aortic valve?

A

Turner syndrome

53
Q

Which congenital disorder ipresents with ovarian dysgenesis, a shield (broad) chest, bicuspid aortic valve and horseshoe kidney?

A

Turner syndrome

54
Q

Which congenital disorder is associated with lymphatic detects? e.g., webbed neck, cystic hygroma, lymphedema in hands and feet

A

Turner syndrome

55
Q

What is a patent urachus?

A

Failure of the urachus to obliterate → urine discharge from the umbilicus

Urachus forms the median umbilical ligament in adults

56
Q

What is gastroscisis?

A

Paraumbilical herniation of the intestine through the abdominal wall without formation of a hernial sac

57
Q

What is an omphacele/exomphalos?

A

Congenital herniation of abdominal viscera through the abdominal wall at the umbilicus

The hernia sac is covered by the amniotic membrane and the peritoneum

58
Q

What is ankyloglossia?

A

Tongue-tie

59
Q

What is the specific genetic defect in Prader-Willi syndrome?

A

15q 11-13 deletion of paternal origin + maternal gene methylation (silencing)

Prader has no Paternal gene

60
Q

What is the specific genetic defect in Angelman syndrome?

A

15q 11-12 delation of maternal origin + paternal gene methylation (silencing)

AngelMan has no Maternal gene

61
Q

Normal development followed by regression and profound cognitive impairment at 6-18 months, characterises which condition?

A

Rett’s syndrome

Predominantly affects females

62
Q

Above how many cafe au lait spots should you start being suspicious?

A

> 3 in a Caucasian/Chinese

> 5 African American

63
Q

Which syndromes are associated with cafe au lait macules?

A

Neurofibromatosis

McCume Albright syndrome

Legius syndrome

Noonan syndrome

Multiple lentigines syndrome

64
Q

Ash-leaf spots are characteristic of which disease?

A

Tuberous sclerosis

65
Q

{ } is a tumour syndrome associated with Wilm’s tumour, neonatal hypoglycaemia, muscular hemihypertrophy and organomegaly (especially of the tongue)

A

Beckwith-Wiedemann Syndrome

66
Q

Lisch nodules, neurofibromas, scoliosis and optic gliomas are characteristic of which disease?

A

Neurofibromatosis type 1

67
Q

Bilateral vestibular schwannomas (acoustic neuromas), cerebral and spinal tumours and meningiomas are characteristic of which disease?

A

Neurofibromatosis type 2

68
Q

Progressive cerebellar ataxia, telangiectasias and immunocompromisation is classic of which condition?

A

Ataxia telangiectasia

69
Q

A port wine stain birthmark is associated with which condition?

A

Sturge-Weber syndrome

70
Q

What is sotos syndrome?

A

Cerebral gigantism

Overgrowth that is evident at birth with an increase in head circumference Hypotonia, mild cognitive impairment and delayed gross and fine motor milestones are typical

71
Q

What is galactosaemia?

A

Hereditary defect in enzymes responsible for the metabolism of galactose

72
Q

In which population is Canavan disease (aspartoacylase deficiency) particularly prevalent?

A

Ashkenazi Jews

Autosomal recessive

73
Q

What are some of the clinical features of Canavan disease?

A

Motor regression

Hypotonia/hypertonia

Macrocephaly

Poor head control

Intellectual impairment

Seizures

Blindness

Paralysis

74
Q

What is the most common abnormality associated with congenital rubella syndrome?

A

Sensorineural deafness

75
Q

How is neurofibromatosis inherited?

A

Autosomal dominant

76
Q

What examination findings might you find in neurofibromatosis?

A

Cafe au lait spots

Lisch nodules

Axillary and inguinal freckling

Neurofibromas

Scoliosis

Hypertension

Short stature

Macrocephaly

77
Q

Which conditions are associated with neurofibromatosis type 2?

A

Bilateral vestibular schwannomas (acoustic neuromas)

Cerebral and spinal tumours

Meningiomas

78
Q

What are some of manifestations of foetal varicella syndrome?

A

Limb aplasia

Chorioretinitis

Cataracts

Cutaneous scars

Cortical atrophy

Hydrops + IUGR (antenatally)

79
Q

What are some of the manifestations of congenital herpes simplex?

A

Vesicular lesions

Keratoconjunctivitis

Meningitis

Disseminated disease - multiple organ involvement, sepsis

80
Q

What is the triad of McCune Albright syndrome?

A
  1. Polyostotic fibrous dysplasia
  2. Pigmentation (cafe au lait spots)
  3. Precocious puberty
81
Q

What is the difference between Duchenne and Becker muscular dystrophy?

A

Becker - slower progression, more heart involvement e.g., dilated cardiomyopathy

82
Q

What three facial features are most specific for foetal alcohol syndrome?

A
  1. Short palpebral fissures
  2. Flattened philtrum
  3. Thin upper lip
83
Q

Neonatal “snuffles” is associated with which congenital condition?

A

Congenital syphilis

84
Q

What is defective in mucopolysaccharidosis?

A

Breakdown of glycosaminoglycans (GAGs)

85
Q

What are the foetal risks of maternal Listeria infection

A

Severe systemic infection with disseminated abscesses (granulomatosis infantiseptica)

Respiratory distress syndrome

Skin lesions

Increased risk of premature birth and spontaneous abortion

86
Q

How is maternal toxoplasmosis infection treated?

A

Spiramycin

Test if symptomatic (cervical lymphadenopathy), suggestive foetal US or high-risk exposure

87
Q

What is neonatal varicella syndrome?

A

Maternal infection with varicella within 5 days before and 2 days after delivery

88
Q

What is foetal varicella syndrome?

A

Congenital varicella from exposure in utero

89
Q

What are the two major manifestations of neonatal lupus?

A
  1. Cutaneous lesions
  2. Heart block
90
Q

What are the features of WAGR syndrome?

A

W - Wilm’s tumour

A - aniridia (parital or complete absence of the iris)

G - genitourinary abnormalities

R - retardation (intellectual disability)

91
Q

What is Potter syndrome?

A

A constellation of findings in infants exposed to severe oligohydramnios

P - pulmonary hypoplasia

O - oligohydramnios

T - twisted skin (wrinkles)

T - twisted face

E - extremity deformities

R - renal agenesis

92
Q

For the most part, are metabolic diseases autosomal dominant or recessive?

A

Recessive

93
Q

For the most part, are structural conditions autosomal dominant or recessive?

A

Dominant

Spherocytosis, Marfan syndrome, von Willebrand, neurocutaneous disorders, HOCM

94
Q

Which conditions are associated with an increased nuchal translucency?

A

Down syndrome

Congenital heart defects

Abdominal wall defects

95
Q

Which conditions are associated with hyperechogenic bowel on antenatal imaging?

A

Cystic fibrosis

Down syndrome

CMV infection

96
Q

What is this abnormality and what is it associated with?

A

Brushfield spots - aggregations of connective tissue on the perophery of the iris

Associated with Down syndrome

97
Q

What is the abnormality and what is it associated with?

A

Sandal gap deformity

Down syndrome

98
Q

What are the hallmark clinical features of the Pierre-Robin sequence?

A

Cleft palate

Glossoptosis (retraction of the tongue in the pharynx)

Micrognathia (small lower jaw)

99
Q

“elfin” facies are associated with which condition?

A

Williams syndrome

Intellectual disability, hypersociability, supraventricular aortic stenosis

100
Q

Which condition is associated with supraventricular aortic stenosis?

A

William syndrome

Paediatrics (24 decks)

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