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Genomics > Dysmorphic child > Flashcards

Dysmorphic child Flashcards

1
Q

What is trisomy 13

A

Patau syndrome

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2
Q

What are the features of pataus syndrome

A

Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

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3
Q

What is mosaic inheritance

A

Inherit extra copy chromosome/general mutation but mutation only present in some cells

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4
Q

What are the complications with pataus syndrome

A

70% miscarriage/stillbirht
80% - heart issues
60% - cleft lip and/or palate
60% - delayed brain development
50% - seizures
50% -hearing loss
50% - joint contractures (shortening of muscle tissue that can cause a deformity)
50% - eye issues or an absent eye

Full form pataus is life limiting - most die in 1 week, 1 in 10 live to 5 yars

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5
Q

What is trisomy 18

A

Edwards syndrome

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6
Q

Featires of edwards syndrome

A

Micrognathia
Low set ears
Rocker bottom feet
Overlapping fingers

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7
Q

Edwards syndrome and life

A

Life limiting
Most babies die within one week of birth
13/100 live past 1

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8
Q

Fragile X physical features

A

Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism
Strabismus
Double jointed fingers
Hypotonia

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9
Q

Fragile X can cause

A

Developmental delays.
Intellectual disabilities.
Learning disabilities.
Anxiety.
Attention-deficit/hyperactivity disorder.
Autism spectrum disorder.

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10
Q

Cause of fragile X syndrome

A

FMR1 gene
X-linked dominant pattern - more common and severe in men

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11
Q

Carriers of fragile X are at risk of

A

Menopause that starts before age 40.
Dementia.
High blood pressure.
Depression.
Anxiety.
Migraines.
Hypothyroidism.
Chronic pain.
Sleep apnea.

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12
Q

Complications of fragile X

A

Seizures.
Sleep issues. According to a different study, 4 in 10 people with fragile X and autism spectrum disorder had sleeping problems. This is compared to 3 in 10 people who have only fragile X.
Aggressiveness or irritability. People with fragile X syndrome in addition to autism spectrum disorder are more likely to be aggressive.
Self-injury behaviors.
Obesity.

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13
Q

When is fragile X diagnosed

A

35-42 months
May notice a difference from 12 months

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14
Q

Fragile X syndrome and life

A

Not life limiting - no life threatening comlications
1 in 10 people w fragile X may live independently

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15
Q

Physcial features of noonasns

A

Webbed neck
Short stature
Pulmonary stenosis
Pectus excavatum

Can be mild to life threatening

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16
Q

Pierre robin syndrome physical features

A

Micrognathia
Posterior displacement of tongue - upper AW obstruction
Cleft palate

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17
Q

What is importnat in pierre robin syndrome management

A

Assess need for immediate AW intervention after delivery

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18
Q

Pierre robin complications

A

Desaturation - monitor O2 sats
Difficulty feeding
Aspiration
cerebral impairment, pulmonary hypertension, cor pulmonale, and failure to thrive

Treat with surgery
Normal life expectancy if treat complciations

19
Q

Difference between treacher collins and pierre-robin syndrome

A

Treacher collins is autosomal dominant - usually some sort of Family history
Pierre robin is norally spontaneous

20
Q

Prader willi syndrome physical features

A

Hypotonia
Hypogonadism
Obesity

21
Q

Williams syndrome physical features

A

Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcemia
Supravalvular aortic stenosis

22
Q

Cause of prader willi syndrome

A

Chromosome 15 mutations

23
Q

Other features of prader willi syndrome

A

Increased appetite
Learning disability
type 2 diabetes
heart failure
breathing difficulties

24
Q

What can williams syndrome be associated with

A

heart (cardiac) defects, abnormally increased levels of calcium in the blood during infancy (infantile hypercalcemia), musculoskeletal defects, and/or other abnormalities.

25
Q

Williams syndrome and life

A

Can live a long life with the right treatment and support

26
Q

What causes cri du chat syndrome

A

Chromosome 5q deletion

27
Q

Physical features of cri du chat syndrome

A

Characteristic cry - larynx and neuro problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
hypertelorism (abnormally large space between the eyes)

28
Q

Life with cri du chat syndrome

A

1 in 10 severely affected and ->

29
Q

What is a malformation

A

Morphological abnormality present at birth and of prenatal origin - can involve a single organ or body part and arises becuase of abnormal development programme -> a malformation a structural birth defect

30
Q

What is a syndrome

A

Set of associated symptoms w known or assumed single aetiology

31
Q

Major malformations aetiology

A

2-3% newborn children

32
Q

Normal variatns in population

A

2-3 toe syndactyly
Preauricular sinus
Hypoplastic or absent ear lobes

33
Q

What are minor anomalies

A

eg distal pharynx abnormality
head/scalp defect
Ears small, posteriorly rotated
Skin - scaral dimples, preauricular tags,
Supernumerary nipples, small hernias
Clinodactlyly etc
Doesnt cause significant disease, functional abnormality or cosmetic problems - NO IMPACT ON LIFE EXPECTANCY OR QOL
<4%

34
Q

Major anomalies what are they adn examples

A

Have effect of life expecatncy/WOL
Casue sifnificant clinical, functonal or csometic problems
eg ectrodactyly, spina bifida

35
Q

Pathogeneisis classifications

A

Malformation - anatomical defect arising as abnormal developmental process - primary defect eg cleft lip
Deformation - distortion physical force of an otherwise normal structure (secondary)
Dysplasias
Disruptops

36
Q

Examples of deformation

A

Amniotic bands
Intrauterine cnstraint eg polyhydraminos or malformed uterus

37
Q

What is a disruption

A

Destruction of tissue prev normal - secondary effect
eg poland sequence - interruption blood supply to limb or msucle

38
Q

What is dysplasia

A

Abnormal cellular organisation within tissue -> structural changes/abnormal growth of a tissue
Primmary defect
eg cartliage hair hypoplasia
Achondroplasia - dwarfism

39
Q

Syndrome vs sequence

A

Syndrome = pattern of anomalies known or thought to have same cause
Sequence = morphologic anomalies resulting from single primary malormation g potter sequence, pierre robin

40
Q

What is an association

A

Pattern of at least 2 anomalies occur togehter more oftne than expected but no cause identified

41
Q

What is VACTERL

A

Association between ->
Vertebral anomalies
Anal atresia
Cardiovascular anomalies
Tracheosophageka fistula
Eosophageal atreaia
Renal and/or radial anomaloes
Limb defects

42
Q

Cleft palate syndrome

A

Pierre robin sequence - isolated
Digeorge syndrome
Stickler syndrome

43
Q

What is SHH gene

A

Sonic hedgehog gene
Massive variaty in phenotype
Often single central incisor
Narrowly spaced eyes
Impacts midline development

44
Q

Nasal voice signifiance

A

Venopharyngeal insufficiency - pre cleft palate

Genomics (11 decks)

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