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Genetic Counseling Boards > Pediatric Genetics > Flashcards

Pediatric Genetics Flashcards

1
Q

Common Referrals

A
  • neurologic: autism, ID, DD, seizures, regression, ataxia, muscular
  • cardiac: malformation, arrhythmia, sudden death
  • sensory: hearing loss, vision loss
  • birth defects: limb anomalies, craniosynostosis, CL/P, GU anomalies
  • dysmorphic facial features
  • tall stature, overgrowth, short stature, FTT
  • immunologic disease
  • dermatologic disease
  • metabolic
  • family history of genetic disease
  • multiple systems affected in same person (most common)
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2
Q

Dysmorphology

A

study of structural defect, especially congenital malformations

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3
Q

Key Components of Dysmorphology Evaluation

A
  • history
  • pedigree
  • physical exam
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4
Q

History

A
  • prenatal history
  • postnatal history
  • growth and developmental history
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5
Q

Pedigree

A
  • 3 generations
  • ask about each pregnancy in chronological order
  • note pregnancy losses, neonatal/childhood demises and causes
  • presence of similar and dissimilar abnormalities in 1st and 2nd degree relatives
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6
Q

Physical Exam - Head

A
  • head circumference
  • examine fontanelles
  • examine hair and distribution (aberrant hair whorls can represent aberrant brain development)
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7
Q

Physical Exam - Face

A
  • forehead: hairline to brows (frontal bossing, sloping)
  • midface: brows to upper lip, outer canthus to outer canthus (telorism, telecanthus, palpebral fissures, irides, epicanthal folds, nose shape, anteverted nares, philtrum, vermilion border, palate, celfting, open mouth-hypotonia)
  • malar regions: upper ear to cheeks (ear symmetry/size/location, preauricular and postauricular differences, pits, tags, cheek symmetry)
  • mandible: lower ear, lower lip, jaw (symmetry, prognathism, micrognathia)
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8
Q

Physical Exam - Neck and Trunk

A
  • neck: short, webbed, nuchal folds
  • chest: symmetry, pectus, widely spaced/supernumerary nipples
  • abdomen: enlargement of any internal organs
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9
Q

Physical Exam - Genitalia

A
  • external: ambiguous, testicular size/volume
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10
Q

Physical Exam - Back

A
  • curvature

- identifiable defects (tufts of hair, sinuses)

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11
Q

Physical Exam - Hands and Feet

A
  • hands: hand length, palm length, middle finger length, poly/syndactyly, pre/postaxial, clenched fists (T18, T13), clinodactyly, dermatoglyphics (arch-T18. whorl-SLOS, loop), palmar crease pattern
  • feet: total foot length, poly/syndactyly, pre/postaxail, abnormalities
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12
Q

Physical Exam - Arms and Legs

A
  • acromelia, mesomelia, rhizomelia, micromelia
  • defects in epiphyses, metaphyses, diaphyses
  • factured vs malformed bones (Halberd appearance - metatropic dysplasia)
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13
Q

Physical Exam - Neurologic

A
  • mental status
  • cranial nerves II-XII
  • motor exam (strength, tone, symmetry)
  • sensory exam
  • reflexes (deep tendon, neonatal)
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14
Q

Craniosynostosis

A
  • skull induces brain growth
  • anterior fontanelles close 1-3y; posterior fontanelles close 1-3m
  • sutures in skull allows for vaginal delivery
  • metopic suture is first to close 3-9m and some may not close until adulthood
  • craniosynostosis occurs when sutures close prematurely
  • 10-20% of primary cases part of malformation syndrome
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15
Q

Scaphocephaly

A

sagittal synostosis

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16
Q

Trigonocephaly

A

metopic synostosis

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17
Q

Plagiocephaly

A

unilateral coronal or unilateral lambdoidal synostosis; positional deformation

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18
Q

Turribrachycephaly

A

“towering”; bilateral coronal synostosis

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19
Q

Cloverleaf/Kleeblattschadel

A

bilateral coronal and bilateral lambdoidal synostosis

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20
Q

Craniosynostosis Syndromes

A
  • FGFR2-related isolated coronal synostosis
  • Crouzon syndrome
  • Pfeiffer syndrome
  • Apert syndrome
  • Muenke syndrome
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21
Q

Orofacial Clefting

A
  • cleft palate more common in females
  • cleft lip more common in males
  • recurrence risk of isolated CL/P: 2-4%
  • 30% CL/P syndromic
  • 50% CP only syndromic
  • other causes include maternal exposure to alcohol, cigarettes, valproate, maternal PKU, diabetes
  • may be isolated
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22
Q

Genetic Causes of CL/P

A
  • Van der Woude
  • 22q11.2, CHARGE, Stickler (Pierre-Robin)
  • T13, holoprosencephaly
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23
Q

Hemifacial Microsomia

A
  • not genetic
  • facial asymmetry +/- facial nerve palsy, mandibular hypoplasia, macrostomia, hearing loss, radial ray anomalies, cardiac anomalies, renal anomalies
  • aka Goldenhar when epibulbar dermoid on eye
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24
Q

ADAM Complex

A
  • asymmetric amputations, disruptions, deformations, adhesions, malformations and mutilations
  • caused by entrapment of fetal parts in amniotic bands
  • clinical triad: amnion-denuded placenta, amniotic bands, oligohydramnios-related deformation
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25
Q

CL/P Repair

A
  • rule of 10’s for CL: 10lbs, 10wks, Hgb 10g/dL
  • nasoalveolar mold helps seal palate and brings flesh of philtrum together
  • CP repaired 10 months
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26
Q

CL/P Issues

A

poor feeding, VPI, poor speech, dental issue, psychological issues

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27
Q

Conductive Hearing Loss

A

involves structures of outer and middle ear

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28
Q

Sensorineural Hearing Loss

A

involves structures of inner ear

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29
Q

Causes of Hearing Loss

A
  • 25% idiopathic
  • 25% non-genetic: rubella, CMV, retinoic acid, prematurity, gentamicin exposure, trauma, tumor
  • 50% genetic: 70% non-syndromic, 30% syndromic
30
Q

Myopia

A

near-sightedness

31
Q

Strabismus

A

poor coordination between eyes; eyes point in different directions when looking at an object

32
Q

Exotropia

A

“wandering eye”

33
Q

Esotropia

A

“cross eye”

34
Q

Ambylopia

A

“lazy eye”

35
Q

Nystagmus

A

eyes wiggle back and forth uncontrollably

36
Q

Lisch Nodules

A

benign hamartomas iris; NF1

37
Q

Stellate Irides

A

star pattern of irises; Williams

38
Q

Coloboma

A

unfused irises; CHARGE

39
Q

Heterochromia

A

different colored irises; Waardenburg

40
Q

Corectopia

A

displacement of pupil; Axenfeld-Rieger

41
Q

Cafe Au Lait Macules

A
  • 10-30% have isolated CALM

- consider NF1 (CoC), McCune-Albright (CoM), Legius

42
Q

ABCDE - Skin

A 
A = asymmetry
B = borders (coast of California, coast of Maine)
C = color
D = diameter
E = changes over time
43
Q

Collodion Membrane

A
  • tight membrane present at birth that does not stretch
  • may cause ectropion (eyelids turn out), eclabium (lips turn out)
  • cracks and sloughs off over first few weeks
  • associated with AR congenital ichthyosis
44
Q

Lentigenes and Nevi

A
  • caused by problem of migration of melanocytes

- associated with Noonan and congenital melanocytic nevus syndrome

45
Q

Epidermolysis Bullosa

A

3 types depending on which skin layer affected

46
Q

Non-Genetic Skin Findings

A
  • eczema, atopic dermatitis
  • Mongolian spot
  • baby acne
  • cradle cap
47
Q

Cardiology Issues

A
  • structural: valve malformation, heart malformation, coarctation, stenosis, dilation, dissection
  • arrhythmia
  • vascular problems
48
Q

Autism

A
  • complex disorder of brain development characterized by difficulties in social interaction, verbal and nonverbal communication, and repetitive behaviors
  • present in 1/68 children
  • 5-15% have identifiable genetic contribution; 85% no identifiable cause
  • preponderance in males
  • recurrence risk: 2-18%
  • Autism Diagnostic Observation Schedule (ADOS) is gold standard for assessment
  • screening at 18m and 24m
  • testing includes CMA, autism/ID panels, WES
49
Q

Normal Age Rolling Over

A
  • gross motor

- 2-6mos

50
Q

Normal Age Sitting Unassisted

A
  • gross motor

- 5-7mos

51
Q

Normal Age Walking

A
  • gross motor

- 11-15mos

52
Q

Normal Age “Mama/Dada”

A
  • language

- 5.5-9mos (nonspecific), 7-13mos (specific)

53
Q

Normal Age 2 Words

A
  • language

- 10-16mos

54
Q

Normal Age Combining Words

A
  • language

- 17-24mos

55
Q

Normal Age Thumb-Finger Grasp

A
  • fine motor, adaptive

- 7-10mos

56
Q

Normal Age Regard Face

A
  • personal, social

- 0-2mos

57
Q

Normal Age Feed Self

A
  • personal, social

- 4.5-6.5mos

58
Q

Normal Age Put on Clothing

A
  • personal, social

- 20-30mos

59
Q

Common Presentation of Developmental Disorders

A
  • infant/toddler with motor delay
  • toddler/preschooler with language delay
  • school age child with school failure
60
Q

Evaluations for Developmental Disorders

A
  • pediatric neurologist
  • developmental pediatrician
  • audiologist
  • psychologist
  • speech and language pathologist
  • OT
  • PT
61
Q

Developmental Disability

A
  • groups of conditions due to impairment in physical, learning, language, or behavior areas
  • conditions begin during developmental period, may impact day-to-day functioning, usually last throughout lifetime
  • present in 15% of children
62
Q

Developmental Delay

A
  • any significant lag in child’s physical, cognitive, emotional, or social maturity
  • used for preschool children to determine eligibility services
  • not used after 5y
63
Q

Intellectual Disability

A
  • characterized by broad impairment in cognitive and adaptive functioning
  • typically with IQ <70, diagnosed before 18y
  • cognitive skill cannot be reliably assessed before age 6y, so may be diagnosed with global developmental delay
64
Q

Etiology of Developmental Disabilities

A
  • mostly unknown causes
  • single gene/Mendelian disorders
  • CNVs/cytogenetic causes
65
Q

First Line Testing Recommendation for GDD/ID/ASD

A
  • CMA
  • FMR1 DNA analysis
  • WES if other testing uninformative
66
Q

Pediatric Testing Strategy

A
  • tiered approach beginning with highest yield test and reflexing to other testing if negative
67
Q

Secondary Findings

A
  • typically adult-onset conditions with medical actionability
  • only pathogenic variants reported
  • 1-3% of have finding on WES
  • ACMG 59
68
Q

Incidental Findings

A
  • more common in tests not specific to phenotype and likely unrelated to primary reason for testing
  • consanguinity
  • non-paternity
69
Q

T/F: To age 18, the parent is the guardian unless other arrangements made

A

True

70
Q

Healthcare Proxy

A

advance medical directive in form of legal document that designates another person to make health care decisions in case person rendered incapable of making own wishes known

71
Q

Guardianship

A

determined by a judge and allows another person to have legal rights over individual

Genetic Counseling Boards (22 decks)

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