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Congenital diseases Flashcards

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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
Do children with 21ß-hydroxylase deficiency have low or high aldosterone?
Low ## Footnote *Hypotension, dizziness, salt-craving, weight loss, anorexia, dehydration*
26
What is the genetic abnormality in fragile X syndrome (Martin-Bell syndrome)?
CGG trinuclotide expansion → altered expression of FMR1 gene (fragile X mental retardation 1 gene)
27
How is fragile X syndrome inherited?
X-linked dominant
28
What are the clinical features of fragile X syndrome?
X-tra large - big ears, testes, face (long) Intellectual disability
29
Which gene is affected in muscular dystrophy?
Dystrophin gene
30
What are the two main forms of muscular dystrophy?
Duchenne Becker
31
How are Duchenne and Becker muscular dystrophy inherited?
X-linked recessive
32
What are the clinical features of muscular dystrophy?
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
33
What is the most common genetic mutation in CF?
ΔF508 (chromosome 7)
34
Which of the following is not a feature of congenital rubella syndrome? 1. Cataracts 2. Deafness 3. Hepatomegaly 4. Hydrops fetalis 5. Thrombocytopenia
Hydrops fetalis
35
What is a cystic hygroma?
Lymph accumulation in the jugular lymphatic sacs due to obstruction in the foetal neck
36
When are cystic hygromas typically diagnosed?
1st trimester ultrasound
37
What is the clinical significance of a cystic hygroma?
Increased risk of foetal aneuploidy and structural malformations *Most resolve throughout pregnancy* *and neonates and phenotypically normal*
38
What is this?
Branchial cleft cyst Usually presents in late childhood or early adulthood when an unrecognised cyst becomes infected Anterior to the SCM
39
What are the most common congenital heart defects found in Down Syndrome?
Atrioventricular septal defect (endocardial cushion defect) (40% of patients) VSD (30% of patients) ASD (15% of patients
40
What is a complete endocardial cushion defect?
ASD, VSD, common AV valve
41
What is a partial endocardial cushion defect?
ASD and minor atriventricular valve abnormalities
42
What conditions are screened for in the newborn bloodspot screening test (NBST)?
Primary congenital hypothyroidism Cystic fibrosis Phenylketonuria (body cannot breakdown phenylalanine) MCDA deficiency (body cannot breakdown fat) Galactosaemia (body cannot process galactose)
43
What are 4 of the neonatal features of down syndrome?
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
What condition is this?
Achondroplasia
45
What is the pathophysiology of achondroplasia?
Mutation in fibroblast growth factor receptor 3 gene (FGFR3) → inhibited chondrocyte proliferation → reduced endochondral ossification (bone formation)
46
Which TORCH infection is associated with microcephaly?
CMV
47
What is the most common cardiac disorder associated with fetal alcohol syndrome?
VSD
48
What facial abnormalities are associated with fetal alcohol syndrome?
Smooth philtrum Thin upper lip Small palpebral fissure Hypertelorism (increased distance between eyes)
49
What is this?
Mongolian spot
50
How is hemophilia inherited?
X linked recessive
51
Which chromosomal disorder is associated with coarctation of the aorta?
Turner syndrome
52
Which chromosomal disorder is associated with a bicuspid aortic valve?
Turner syndrome
53
Which congenital disorder ipresents with ovarian dysgenesis, a shield (broad) chest, bicuspid aortic valve and horseshoe kidney?
Turner syndrome
54
Which congenital disorder is associated with lymphatic detects? e.g., webbed neck, cystic hygroma, lymphedema in hands and feet
Turner syndrome
55
What is a patent urachus?
Failure of the urachus to obliterate → urine discharge from the umbilicus ## Footnote *Urachus forms the median umbilical ligament in adults*
56
What is gastroscisis?
Paraumbilical herniation of the intestine through the abdominal wall without formation of a hernial sac
57
What is an omphacele/exomphalos?
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
What is ankyloglossia?
Tongue-tie
59
What is the specific genetic defect in Prader-Willi syndrome?
15q 11-13 deletion of paternal origin + maternal gene methylation (silencing) ## Footnote ***P**rader has no **P**aternal gene*
60
What is the specific genetic defect in Angelman syndrome?
15q 11-12 delation of maternal origin + paternal gene methylation (silencing) *Angel**M**an has no **M**aternal gene*
61
Normal development followed by regression and profound cognitive impairment at 6-18 months, characterises which condition?
Rett's syndrome Predominantly affects females
62
Above how many cafe au lait spots should you start being suspicious?
\> 3 in a Caucasian/Chinese \> 5 African American
63
Which syndromes are associated with cafe au lait macules?
Neurofibromatosis McCume Albright syndrome Legius syndrome Noonan syndrome Multiple lentigines syndrome
64
Ash-leaf spots are characteristic of which disease?
Tuberous sclerosis
65
{ } is a tumour syndrome associated with Wilm's tumour, neonatal hypoglycaemia, muscular hemihypertrophy and organomegaly (especially of the tongue)
Beckwith-Wiedemann Syndrome
66
Lisch nodules, neurofibromas, scoliosis and optic gliomas are characteristic of which disease?
Neurofibromatosis type 1
67
Bilateral vestibular schwannomas (acoustic neuromas), cerebral and spinal tumours and meningiomas are characteristic of which disease?
Neurofibromatosis type 2
68
Progressive cerebellar ataxia, telangiectasias and immunocompromisation is classic of which condition?
Ataxia telangiectasia
69
A port wine stain birthmark is associated with which condition?
Sturge-Weber syndrome
70
What is sotos syndrome?
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
What is galactosaemia?
Hereditary defect in enzymes responsible for the metabolism of galactose
72
In which population is Canavan disease (aspartoacylase deficiency) particularly prevalent?
Ashkenazi Jews ## Footnote *Autosomal recessive*
73
What are some of the clinical features of Canavan disease?
Motor regression Hypotonia/hypertonia Macrocephaly Poor head control Intellectual impairment Seizures Blindness Paralysis
74
What is the most common abnormality associated with congenital rubella syndrome?
Sensorineural deafness
75
How is neurofibromatosis inherited?
Autosomal dominant
76
What examination findings might you find in neurofibromatosis?
Cafe au lait spots Lisch nodules Axillary and inguinal freckling Neurofibromas Scoliosis Hypertension Short stature Macrocephaly
77
Which conditions are associated with neurofibromatosis type 2?
Bilateral vestibular schwannomas (acoustic neuromas) Cerebral and spinal tumours Meningiomas
78
What are some of manifestations of foetal varicella syndrome?
Limb aplasia Chorioretinitis Cataracts Cutaneous scars Cortical atrophy Hydrops + IUGR (antenatally)
79
What are some of the manifestations of congenital herpes simplex?
Vesicular lesions Keratoconjunctivitis Meningitis Disseminated disease - multiple organ involvement, sepsis
80
What is the triad of McCune Albright syndrome?
1. Polyostotic fibrous dysplasia 2. Pigmentation (cafe au lait spots) 3. Precocious puberty
81
What is the difference between Duchenne and Becker muscular dystrophy?
Becker - slower progression, more heart involvement e.g., dilated cardiomyopathy
82
What three facial features are most specific for foetal alcohol syndrome?
1. Short palpebral fissures 2. Flattened philtrum 3. Thin upper lip
83
Neonatal "snuffles" is associated with which congenital condition?
Congenital syphilis
84
What is defective in mucopolysaccharidosis?
Breakdown of glycosaminoglycans (GAGs)
85
What are the foetal risks of maternal *Listeria* infection
Severe systemic infection with disseminated abscesses (granulomatosis infantiseptica) Respiratory distress syndrome Skin lesions *Increased risk of premature birth and spontaneous abortion*
86
How is maternal toxoplasmosis infection treated?
Spiramycin ## Footnote *Test if symptomatic (cervical lymphadenopathy), suggestive foetal US or high-risk exposure*
87
What is neonatal varicella syndrome?
Maternal infection with varicella within 5 days before and 2 days after delivery
88
What is foetal varicella syndrome?
Congenital varicella from exposure in utero
89
What are the two major manifestations of neonatal lupus?
1. Cutaneous lesions 2. Heart block
90
What are the features of WAGR syndrome?
W - Wilm's tumour A - aniridia (parital or complete absence of the iris) G - genitourinary abnormalities R - retardation (intellectual disability)
91
What is Potter syndrome?
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
For the most part, are metabolic diseases autosomal dominant or recessive?
Recessive
93
For the most part, are structural conditions autosomal dominant or recessive?
Dominant Spherocytosis, Marfan syndrome, von Willebrand, neurocutaneous disorders, HOCM
94
Which conditions are associated with an increased nuchal translucency?
Down syndrome Congenital heart defects Abdominal wall defects
95
Which conditions are associated with hyperechogenic bowel on antenatal imaging?
Cystic fibrosis Down syndrome CMV infection
96
What is this abnormality and what is it associated with?
Brushfield spots - aggregations of connective tissue on the perophery of the iris Associated with Down syndrome
97
What is the abnormality and what is it associated with?
Sandal gap deformity Down syndrome
98
What are the hallmark clinical features of the Pierre-Robin sequence?
Cleft palate Glossoptosis (retraction of the tongue in the pharynx) Micrognathia (small lower jaw)
99
"elfin" facies are associated with which condition?
Williams syndrome ## Footnote *Intellectual disability, hypersociability, supraventricular aortic stenosis*
100
Which condition is associated with supraventricular aortic stenosis?
William syndrome

Paediatrics (24 decks)

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