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2023 RC Blue's Clues > Genetics & Metabolics > Flashcards

Genetics & Metabolics Flashcards

1
Q

Trisomy 13 genetics

A
  • patau syndrome
  • trisomy caused by maternal neurotic nondisjunction
  • risk increases with maternal age
  • can be suspected on prenatal screening
  • confirmatory diagnosis with karyotype
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2
Q

Trisomy 13 features

A
  • facial: sloping forehead, eye abnormalities (small eyes, close together eyes, iris colobomas), low set abnormal ears, small jaw
  • cleft lip and palate
  • cutis aplasia congenita (helps distinguish from T18)
  • midline defects
  • central apnea high risk
  • heart: VSD, ASD, ToF
  • renal problems - multi cystic, horshshoe
  • often die within 2 weeks of birth (cardio respiratory) (10% survive beyond 1yr)
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3
Q

Trisomy 13 health surveillance

A

If they survive beyond neonatal period
- echo
- kidney ultrasound
- brain MR
- sleep study for central apnea

  • monitor growth on T13 curve
  • feeding assessments
  • regular eye checks by optho
  • development and intellectual delays common (most remain non verbal)
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4
Q

Rett Syndrome

A

X linked
Hand wringing
Autistic behaviour
Female
Should be investigated for differential genetic cause of ASD or severe ID in female
MECP2 molecular testing for dx

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5
Q

Sturge Weber

A

Mosaic somatic mutations
Port wine birthmark +/- brain involvement +/- glaucoma
Brain MR to diagnose
Optho consult for glaucoma
Overlap with Klippel-Trenaunay syndrome (mixed capillary/venous/lymphatic malformations involving bone and muscle in one limb)
Can have seizures, development problems, stroke-like episodes, headaches

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6
Q

Lesch Nyhan Syndrome

A

Classic: kidney stones, gout, self-injurious behaviour, GDD, dystonia
X-linked recessive (boys)
If gout, think purine metabolism disorder (decreased enzyme or overproduction)
Allopurinol for gout treatment
Diagnose with HPRT enzyme analysis, high serum uric acid, high urine uric:Cr

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7
Q

Cervical spine xrays in Down syndrome

A

onlyif symptoms:
Any child with neck pain, radicular pain, weakness, spasticity, changes in gait, hyper-reflexia, change in bowel/bladder or signs of myelopathy warrant plain cervical spine xrays in neutral position.

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8
Q

clinical manifestations of A1AT

A

Lung disease (ex bronchiectasis, emphysema) :(occurs with severe genotype)
PFT: reduced expiratory air flow, hyperinflation, low diffusion capacity

Liver disease (hepatoma, cirrhosis):
Prolonged neonatal jaundice
Cholestasis symptoms
Mildly elevated liver enzymes
Can develop portal hypertension

Skin & soft tissue:
Panniculitis (rare but classic, can occur with all genotypes)
Cellulitis like areas or tender red nodules on trunk or proximal extremities
Nodules tend to ulcerate spontaneously and discharge oily yellow fluid
Persistent cutaneous vasculitis
Cold urticaria
Acquired angioedema

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9
Q

PFT finding to suggest A1AT

A

Anyone with fixed airflow obstruction on spirometry should be screened for A1AT

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10
Q

Male with ambiguous genitalia, edema and proteinuria

A

Denys Drash syndrome

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11
Q

Cafe au lait macules and axillary freckling

A

Neurofibromatosis

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12
Q

Neurofibromatosis type 1

A

-Cafe au lait macules 6+ (most on trunk and extremities)
-Axillary or inguinal freckling
-Iris lisch nodules 2+ (identified on slit lamp - need optho assessment)
-Neurofibromas 2+
-Bone abnormalities (Osteopenia, Scoliosis, Long bone dysplasia)
-Optic gliomas (optho!!) - can extend to hypothalamus and cause precocious puberty

autosomal dominant

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13
Q

Wilm’s tumor + ambiguous genitalia

A

denys drash

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14
Q

abdo distension, hematuria, fevers, anorexia, pallor, weight loss

A

wilms tumor

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15
Q

Wilm’s, absent iris, undescended testes, GDD

A

WAGR syndrome

Wilms
Aniridia: absent colored region of eye
GU abnormalities: undescended testes, hypospadias, internal genital/urinary anomalies
Retardation

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16
Q

Frasier syndrome

A

congenital nephropathy, ambiguous genitalia in males, underdeveloped gonads that may lead to cancer. Early ESRD in childhood

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17
Q

ADHD, ataxia, intellectual dissability and adrenal insufficiency

A

x linked adrenoleukodystrophy

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18
Q

progressive weakness, intellectual impairment, hypertrophy of calves

A

ducehenne muscular dystrophy

x linked recessive

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19
Q

cerebellar ataxia, oculomotor apraxia, choreoathetosis, telangiectasia, immunodeficiency

A

ataxia telangectasia
autosomal recessive
symptom onset before age 5

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20
Q

E.coli sepsis related to metabolic condition

A

galactossemia

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21
Q

Wilms Tumor Genetic Syndromes

A

WT1 mutation

  • denys drash
  • fraser syndrome
  • WAGR

Bottom line: WT1 mutation = Wilms Tumor, Kidney disease, abnormal genitals

Beckwith Wiedemann also has wilms tumor association

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22
Q

Dent disease

A

proteinuria & nephrolithiasis

X-linked
nephrolithiasis
low molecular weight proteinuria,
hypercalciuria
Fanconi Syndrome (proximal tubule defect- glycosuria, amino aciduria, phosphaturia)

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23
Q

Consanguinity common gene inheritance

A

think autosommal recessive

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24
Q

Smith Lemli Opitz Syndrome

A

Autosomal recessive (think consanguinity)
Mutation in 7-dehydroxycholesterol-delta7 reductase- the final step in cholesterol synthesis.
Have low cholesterol and buildup of cholesterol precursors and many congenital anomalies

Type 1 (classic): Prenatal and postnatal growth retardation, microcephaly, ptosis, anteverted nares, syndactyly of 2nd and 3rd toes, and severe cognitive impairment. 70% are males- genotypic makes have ambiguous genitalia or complete sex reversal with female genitalia. Associated with pyloric stenosis

Type 2: acrodysgenital syndrome- lethal within 1 yr, severe malformations, postaxial polydactyly, extremely abnormal external genitalia. Cleft Palate have been seen in Type II

Rx= dietary cholesterol (egg yolks lol) and HMGCoA reductase inhibitors to prevent precursor buildup

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25
Q

Turner syndrome heart

A

left sided heart problems
- bicuspid AV
- aorta things

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26
Q

Achondroplasia

A

Autosomal Dominant- FGFR3 mutation
The most common short-stature skeletal dysplasia marked by rhizomelia (disproportionate length of proximal limb), macrocephaly, midface hypoplasia, and normal cognition

Can get spinal stenosis and small foramen magnum

Growth hormone NOT effective

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27
Q

VACTERL investigations

A

CXR (butterfly vertebrae)
abdo US (kidney problems

no genetic testing

VACTERL Association
V- Vertebral anomalies- CXR (spine xray)- butterfly vertebrae
A- anal atresia/anorectal anomalies- examine
C- Cardiac
TE- TEF
R- enal- ultrasound
L- limb

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28
Q

Gilbert syndrome

A

A familial, nonhemolytic, unconjugated hyperbilirubinemia
Most common hereditary hyperbilirubinemia syndrome (5-10% white ppl)
Autosomal recessive

Defect in promoter region for UDPGT-1 (enzyme that makes bilirubin water soluble)- making it only partially effective

Unlike Crigler Nijjar (also defect in UDPGT)- it often presents after puberty and not associated with chronic liver disease.

Mild, fluctuating levels of bili. No treatment. Only really important in some chemotherapies because this enzyme breaks it down

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29
Q

What test for Beckwith Wiedemann

A

DNA Methylation test

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30
Q

Tests requiring DNA methylation test

A

Uniparental disomy syndromes

Beckwith Wiedemann
Prader Willi
Angelman

Loss of methylation on mom

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31
Q

Beckwith Wiedemann

A

big tongue
keep eating
organomeagly

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32
Q

Neonate with persistent hypoglycemia, seizure and absent septum pellucidum

A

Septo optic dysplasia

  • midline brain defects (think absent corpus callosum or septum pellucidum)
  • can get panhypopit (and pituitary hormone issues)
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33
Q

Septo-optic dysplasia

A

Also called “optic nerve dysplasia syndrome”

Classic “triad” or any combo of:
Optic nerve hypoplasia (nystagmus, visual impairment)
Pituitary gland hypoplasia (75%, most common is GH deficiency)
Midline brain defects (absent corpus collosum, corpus collosum dysgenesis)

can have seizures

Causes: genetic (unknown), cocaine in pregnancy, other environmental

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34
Q

Isolated polydactyly

A

pretty normal. can remove the digit

Typically autosomal dominant in inheritance
If isolated, especially with family history, no other workup
Treatment is ablation of digit (Suture ligation or surgical depending on how formed)

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35
Q

Ash leaf spots

A

hypopigmented lesions
can be seen with Wood’s lamp (blue light)

tuberous sclerosis
- tubors in brain

autosomal dominant with variable expressivity

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36
Q

McCune Albright

A

Triad of- precocious puberty (peripheral), polyostotic disease (fibrous dysplasia), abnormal pigmentation with irregular borders

Autonomous hyperfunctioning of 1 or more gland (pituitary, thyroid, and adrenal glands). GNAS mutation which stimulates cAMP and activates receptors including those for ACTH, TSH, FSH, LH). In short, get lots of endocrinopathies (hyperthyroid, cushings, etc)

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37
Q

neurocutaneous disorders

A

Neurofibromatosis 1/ 2
Fanconi Anemia
Russell Silver Syndrome (Cutis aplasia, cardiac stuff)
Noonan Syndrome
Bloom Syndrome
Tuberous Sclerosis (usually hyPOpigmented)
McCune Albright
Sturge Webber

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38
Q

Males only transmission

A

x linked recessive

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39
Q

Mccune Albright

A

bone problems (Polyostotic Fibrous Dysplasia)
large cafe au lait macules
endocrine problems - precocious puberty

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40
Q

hypoketotic hypoglycemia

A

fatty acid oxidation disorder (acidosis)
hyperinsulinism (no acidosis; insulin inhibits ketosis)

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41
Q

Anions minus cations

A

Na - (HCO3 + Cl) = AG
**Sometimes sources say (Na+K)- (HCO3+Cl)
Wide Anion Gap >12 (+/-2) = Acid Gain

Causes of wide anion gap metabolic acidosis = MUDPILES

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42
Q

A newborn baby is found to have choanal atresia.

A

CHARGE syndrome
(coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities)

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43
Q

CHARGE syndrome

A
  • Coloboma
  • Heart defects (commonly TOF)
  • Atresia of the choanae
  • Retardation of growth & development
  • GU anomalies
  • Ear anomalies (ear abnormalities, SNHL)

Other:
asymmetric facial nerve palsy, cleft lip/palate, EA/TEF

usually sporadic mutation
single gene testing - SHD 7

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44
Q

Trisomy 21 surveillance

A

Birth
- echo before 1 mo age
- TSH as newborn
- cbc within 1 week

Annual
Hearing screen

CBC
TSH

Optho q 2 years

Celiac only if symptomatic

cervical spine screen if symptomatic

sleep study by age 4

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45
Q

Carnitine-acylcarnitine translocase deficiency

A

Fatty acid oxidation disorder
- avoid prolonged fasting

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46
Q

Beckwith Wiedemann associated cancers

A

Associated health conditions:
Embryonal cancer (until at least age 8):
- Wilm’s tumour
- Hepatoblastoma
- Neuroblastoma
- Rhabdomyosarcoma

Screening:
AFP (for hepatoblastoma) & abdo US q3mo until 4yo
Then renal US including adrenal glands q3mo until 8yo (then less frequently)
Periodic CXR and urine HVA/VMA (for neuroblastoma) have been suggested but low yield so not in most screening protocols

DNA methylation testing (MS-MLPA)

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47
Q

Beckwith Wiedemann symptoms

A

Pits and creases (ears)
Macrosomia, macroglossia
Hypoglycemia (neonatal) - pancreatic beta cell hypertrophy
Facial nevus simplex and other vascular malformations
Asymmetric growth, hemihypertrophy
Characteristic facies: midface hypoplasia and infraorbital creases
Omphalocele, umbilical hernia
Premature and overgrown at birth
Organomegaly
Enlarged adrenal cortex
Cardiomegaly or structural cardiac anomalies
Renal abnormalities: nephromegaly, nephrocalcinosis, etc.
Advanced bone age

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48
Q

Prader Willi Symptoms

A

In Infancy:
Poor suck
Need tube feeding
Poor growth/FTT
Central hypotonia

Childhood: 4Hs and an O
Hypotonia
Hypogonadism
Hypomential/devel delay
Hyperphagia
Obesity (truncal)

Other physical features: almond shaped eyes, thin upper lip, small hands/feet

DNA methylation studies

growth hormone helps in Prader Willi

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49
Q

Digeorge syndrome testing

A

FISH for 22q11
or microarray

test PTH and calcium
immune workup (T and B cells, immunoglobulins, vaccine titers)
renal US for anomalies

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50
Q

Williams syndrome testing

A

FISH for 7q

think if HYPERcalcemia

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51
Q

CATCH 22

A

Digeorge:

CHD: VSD, TOF, interrupted aortic arch
Abdomal facies
thymic hypoplasia
cleft palate
hypocalcemia
22q11 deletion syndrome

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52
Q

Baby has tetrology of fallot - what genetic disorder do you test for

A

DiGeorge (22q11 deletion)

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53
Q

congenital central hypoventilation syndrome

A

primary central apnea, hypercarbia, and hypoxemia.

presents within first several weeks of life

associated with risk of Hirschsprung and neuroblastoma

they should have holter every 12 mo - risk of sinus pauses (may need pacemaker)

PHOX2B

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54
Q

Noonan Syndrome symptoms

A

hypertelorism, big forehead, webbed neck
MSK: pectus, wide nipples
CHD: right sided lesions (PS), cardiomyopathy
Cryptorchidism
Hypotonia
Failure to thrive
Abnormal bleeding and bruising

multi gene testing panel

similar to Turner’s but hypertrophic cardiomyopathy for heart lesion and has cryptorchidism

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55
Q

Smith Lemli Opitz

A

microcephalic
cleft palate
syndactylyl 2nd and 3rd toes

low cholesterol problem (think opposite of familial hypercholesterol)

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56
Q

Myotonic muscular dystrophy

A

Affects all muscles

  • hypotonia at birth
  • inverted v of upper lip
  • shitty muscles everywhere - look thin, muscle wasted
  • reflexes preserved (different from Duchenne late illness)
  • CK not as high as other muscular dystrophies

Autosomal dominant
PCR testing

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57
Q

2year-old boy with hypoglycemia, triangular faces with 4 café au lait macules. Ht 3rd, wt 3rd, HC 50th.

A

Russel Silver

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58
Q

Russel Silver syndrome

A

Small for gestational age (asymmetric SGA)
FTT
Relative macrocephaly, triangular face, fifth finger clinodactyly
Feeding difficulties
Micrognathia with narrow chin
Hypoglycemia
Cafe au lait macules

Testing: DNA methylation studies

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59
Q

Russell Silver acute illness

A

measure ketones and blood sugar - risk of ketotic hypoglycemia when ill

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60
Q

Cafe au lait ddx

A

NF1
Legius syndrome (SPRED1): no neurofibromas or lisch nodules
NF2: vestibular schwannoma
Noonan: congenital cardiac defects, dysmorphisms
Constitutional mismatch repair genes mutations: GI cancers
Russell-Silver syndrome: Small for gestational age
McCune-Albright syndrome: endocrinopathies, fibrous dysplasias
Fanconi anemia: hematologic abnormalities, multiple congenital abn

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61
Q

2 year old boy 3 days of vomiting and diarrhea. Lethargic. Glucose low (2.4?). Ketones 2+. Most likely diagnosis?

A

hyperketotic hypoglycemia

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62
Q

Adrenocorticoleukodystrophy

A

think if:
- tanned (signs of addison disease)
- ADHD symptoms
- ataxic

LCFAD
x linked
affects the brain and adrenals (Addison like picture)

Dx:
- check long chain FA to confirm diagnosis
- brain MR after diagnosis
- cortisol w/u after diagnosis

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63
Q

ELFIN FACIES

A

Williams syndrome

supravalvular AS and coarctation
hypercalcemia
stelatte iris

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64
Q

Beckwith Wiedemann tumor association

A

Hepatoblastoma highest risk - check AFP every few months

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65
Q

Neonate with severe hypotonia and requiring gavage feeding. often puffy feet and hands

A

Prader Willi

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66
Q

Timing for achondroplasia neuroimaging sreening

A

by 1 month of age, MR brain

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67
Q

What test is warranted for kids with new developmental delay?

A

chromosomal microarray

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68
Q

3 week old . PH 7.1. High ammonia, high lactate. Etiology?

A

organic acidemia
(ex. methylmalonic acidemia)

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69
Q

If cafe au lait spots, refer to?

A

optho for optic glioma and Lisch nodules (need slit lamp to help with diagnosis

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70
Q

Turner syndrome features

A

XO
sporadic inheritance (can have mosaicism)

Classic things:
- webbed neck
- broad chest, wide spaced nipples
- low birth weight
- short stature
- wide carrying angle
- low hairline

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71
Q

Turner syndrome systemic conditions

A
  • screen for celiac disease
  • hypothyroid
  • CHD: coarc and bicuspid AV valve
  • renal malformations
  • hearing loss from AOM
  • ovarian failure - delayed puberty
  • short stature (can improve with GH)
72
Q

Diagnostic testing for galactossemia

A

elevated GALT level urine

73
Q

Galactossemia inheritance

A

autossomal recessive

74
Q

Galactossemia features

A

Jaundice, hepatomegaly, hepatic failure, ascites, splenomegaly
Feeding difficulties, vomiting, poor weight gain
Hypoglycemia
Seizures, lethargy, irritability
Aminoaciduria
Cataracts, vitreous hemorrhage
Increased risk for E coli sepsis
Pseudotumor cerebri can occur and cause a bulging fontanelle

75
Q

Organic acidemia

A
  • accumulation of toxic acid metabolites
  • excrete the organic acids in urine (test the urine)
  • appear in newborn period or infancy typically
  • life threatening episode of AG Metabolic acidosis first presentation
  • AG from ketosis
  • frequently neutropenic or pancytopenic d/t bone marrow suppression

dx: urine organic acids

Highest risk during periods of catabolism (fasting)

76
Q

Urea cycle defect

A

normally urea cycle helps convert nitrogen into urea to be excreted

  • often presents similar to sepsis with lethargy –> coma
  • hyperammonemia
  • central hypoventilation leading to respiratory alkalosis due to the toxic metabolites
  • high ammonia
  • hormal glucose
  • anion gap
  • respiratory alkalosis
77
Q

Klinefelters

A

XXY
can cause primary hypogonadism
ambiguous genitalia (varying degrees)

infertility later in life

often developmental delay
delayed puberty
tall stature
high FSH and LH
low testosterone

Karyotype dx

78
Q

Marfan

A

connective tissue disorder

aortic anneurysm, disection, rupture is risk

AV valve prolapse
rhythm problems

eye problems - refer to optho
can get dislocation of the lens (ectopia lentis)

refer to optho and cardio if questioning

79
Q

High ammonia with respiratory alkalosis

A

urea cycle defect

80
Q

High ammonia with acidosis AG

A

aminoacidopathy or organic acidemia

81
Q

Hypoketotic hypoglycemia

A

fatty acid oxidation disorder or hyperinsulinism

82
Q

Hypoglycemia with high lactate

A

glycogen storage disorder

83
Q

High lactate constantly

A

mitochondrial disorder

84
Q

liver failure in newborn

A

galactossemia

85
Q

gram negative sepsis in newborn (ex. ecoli)

A

galactossemia

86
Q

Smith Lemli Opitz

A

slOw, dont grOw, weird tOes,

87
Q

Central congenital hypoventilation syndrome

A

PHOX2B mutation
can’t sense hypercarbia
need PSG in first yr life
arrhythmia so need holter
urine screen and US for neuroblastoma
Hirschsprung

88
Q

genetic conditions with cafe au lait macules

A

Neurofibromatosis 1
Neurofibromatosis 2
Fanconi Anemia
Russell Silver Syndrome
Noonan Syndrome
Bloom Syndrome
Tuberous Sclerosis
McCune Albright

89
Q

syndromes with craniosynostosis

A

Crouzon Syndrome
Apert Syndrome
Pfeiffer Syndrome

Saethre Chotzen
Muenke Syndrome

90
Q

3 syndromes requiring PSG before age 1

A

achondroplasia
congenital central hypoventilation syndrome
prader willi *not necessairly before 1

91
Q

cocaine teratogen association

A

placental abruption

92
Q

most common cardiac defect from perinatal alcohol use

A

septal defects - ASD/VSD

93
Q

fetal hydantoin syndrome

A

microcephaly
cleft lip
hypoplastic nails
hypoplastic distal phalanges (short stubby tips of fingers)

94
Q

maternal diabetes teratogen features

A
  • sacral agenesis (caudal regression syndrome)
  • small left colon syndrome
  • hypertrophic cardiomyopthy
95
Q

maternal PKU during pregnancy

A

if mom’s disease is well controlled, limited effects on baby

if maternal phenylalanine is high and uncontrolled, risk of:
- IUGR
- microcehaly
- heart defects
- ADHD

96
Q

syndrome strongly associated with cutis aplasia

A

patau (Tri 13)

97
Q

baby with IUGR, prominent occiput, overlapping fingers and rockerbottom feet

A

trisomy 18
Edwards

98
Q

down syndrome heart disease

A

AVSD > VSD > ASD > ToF > PDA

99
Q

girl with delayed puberty, short stature and followed by cardiology

A

Turner syndrome

100
Q

Turner syndrome heart defects

A

left side - turn left!
bicuspid aortic valve
coarctation
long QTc

101
Q

baby with hypocalcemia and recurrent infections and cleft palate

A

DiGeorge 22q11.2

C-cardiac (conotruncal)
A-abnormal facies
T-thymus hypoplasia
C-cleft lip
H-hypocalcemia

102
Q

diGeorge heart disease

A

conotruncal
- ToF
- interrupted aortic arch
- truncus arteriosus

103
Q

autosomal dominant diseases examples

A

Achondroplasia
Crouzon syndrome
CHARGE
Ehlers-Danlos
Familial adenomatosis Polyposis
Hereditary breast/ovarian cancer
Li-Fraumeni syndrome
Marfan syndrome
Neurofibromatosis 1
Neurofibromatosis 2
Noonan syndrome
Osteogenesis imperfecta
Treacher Collins syndrome
Tuberous sclerosis complex
Huntington disease
Denys-Drash syndrome

104
Q

autosomal recessive diseases examples

A

Congenital adrenal hyperplasia
Cystic fibrosis
Phenylketonuria
Sickle cell disease
Tay-Sachs disease
Congenital myasthenia syndrome
Jeune asphyxiating thoracic dystrophy
Alpers-Huttenlocher syndrome
Leigh syndrome can be mitochondrial

105
Q

x linked recessive examples

A

Duchenne muscular Dystrophy
Hemophilia A/B
Lesch-Nyhan syndrome

106
Q

x linked dominant examples

A

Incontinentia pigmenti
Rett syndrome
Fragile X syndrome

107
Q

mitochondrial inheritance examples

A

moms will pass mtDNA to all children; dad’s don’t pass on
hetoplasmy occurs when there is more than one population of mitochondria in the oocyte

  • MELAS
  • Leigh syndrome (also AR)
108
Q

uniparental disomy examples

A

patient inherits two copies from one paren’t chromosome (instead of one) leading to identical chromosomal markers on both

  • prader willi (maternal - inherit 2 from mom; where is papa?!)
  • angelman (paternal - inherit 2 from dad; missing mom )
  • beckwith wiedemann
  • Russel silver (maternal - inherit from mom)
109
Q

trinucleotide repeat exansion examples

A

DNA appears as repeat sequences of three bases. disease occurs when number of rpts exceeds a threshold

  • fragile X
  • Friedreich ataxia
  • huntington
110
Q

methotrexate teratogen exposure

A

craniosynostosis
craniofacial anomalies
underossified skull
limb defects

MTX FUX UP DA BONES IN DA BABY ESP DA SKULL

111
Q

Angiotensin receptor blockers in late pregnancy teratogen effects

A

rena dysgenesis
skull ossification defects
oligohydramnios

112
Q

tobacco teratogen effects

A

premature delivery
miscarriage
stillbirth

113
Q

warfarin teratogen effects

A

nasal hypoplasia
stippled epiphysis
developmental delay

114
Q

valproic acid teratogen effects

A

spina bifida / neural tube defects
craniofacial
hypospadias

115
Q

isotretinoin (Accutane/vit A) teratogen effects

A

CNS defects
absent thymus
conotruncal defects
intellectual disability
miscarriage

116
Q

baby with large occiput, rockerbottom feet and overlapping fingrs

A

trisomy 18

117
Q

crouzon syndrome

A

craniosynostosis
big forehead
hypertelorism, proptosis
cleft lip/palate
NORMAL intelligence, normal extremities
CROUZON CRANIOSYNOSTOSIS FCKED UP CRANIUM but smart

AD inheritance
most common craniosynostosis syndrome (but occurs in 1/16 million)

118
Q

Pfeiffer syndrome and Apert syndrome

A

Pfeiffer
- craniosynostosis
- hearing loss
- THUMB/BIG TOE problems (curved out) +/- syndactylyl

Apert
- craniosynostosis
- hearing loss
- PROMINENT SYNDACTYLY

119
Q

is turner syndrome associated with advanced maternal age?

A

no

120
Q

puberty in turner syndrome

A

delayed puberty
amenorrhea
breast development limited to breast buds, minimal pubic hair
infertile d/t streak ovaries with premature ovarian failure
significant growth retardation d/t estrogen insufficiency

121
Q

list 3 genetic syndromes with short stature

A

Turner syndrome
Noonan syndrome
prader willi

122
Q

Turner syndrome unique features

A

XO
shield chest, wide spaced nipples, webbed neck
heart: left sided lesions
short stature
delayed puberty/amenorrhea
increased with autoimmune disorders
normal intelligence

123
Q

Noonan syndrome unique features

A

webbed neck, low set ears, down slanting palpebral features
heart: right sided lesions (pulm stenosos, hypertrophic CM)
cryptorchidism
coagulopathy
short stature

*Facial features: droopy noonan - droopy eyes (down slanting palpebral), droopy ears (low set and posterior rotation), droopy neck (webbed)
NOT DROOPY TESTICLES
AKA Doppy from Snow White

124
Q

which of the following syndromes appear normal at birth?
Turner
Klinefelter
Noonan
DiGeorge

A

Klinefelter
often confused with Marfan d/t tall stature later in life
delayed puberty and infertility

125
Q

Klinefelter features

A

XXY
normal appearing at birth
Tall stature
GU: tiny testes and penis, hypospadias
Delayed puberty and infertility (testosterone
replacement in adolescence if no puberty)

+/- development/learning disabilities

126
Q

boy with big ears, big testicles and intellectual disability

A

fragile X

127
Q

fragile X genetics

A

x linked dominant
FMR1 gene
PCR diagnosis
CGG repeats
- premutation 55-200 rpts
- full mutation 200+ rpts

128
Q

fragile x features

A

mild to mod intellecutual disability (apparent by age 2)
face: long, narrow, big ears, big forehead
big testicles

fam hx of miscarriages in mom (female carriers can be symptomatic and often have premature ovarian failure)

129
Q

NF 2 pearls

A

AD
Think
- schwanomas
- gliomas
- meningiomas
- neurofibromas

other: cataracts, hearing loss, tinnitus, cafe au lait

130
Q

workup and investigations for NF1

A

NF1 molecular genetic testing
MRI brain (only if symptomatic)
annual optho
annual BP monitoring
monitor for scoliosis
routine tumor surveillance (incr risk of pheo, gliomas, juvenile myelomonocytic leukemia, breast ca)

131
Q

investigations and wokrup for tuberous sclerosis

A

genetic testing TSC1 and TSC2
brain MR (rpt q3 yr)
EEG
Echo
optho
renal US

if sz, use vigabatrin

132
Q

incontentia pigmenti

A

x linked dominant
weird rashes present at birth
classically blistering rash at infancy (mistaken for HSV) but follows lines of Blashko
rash changes over time –> hyperpigmented –> hypopigmented
at risk for seizures and retinal detachment

133
Q

angelman syndrome

A

UPD (paternal inheritance; missing mom)
features
- microcephaly
- seizures
- sleep problems
- ataxia
- happy demeanor, innappropriate laughter, anger outbursts
- developmental delays, non verbal

do an EEG d/t increased risk seizures

134
Q

lesch nyhan inheritance and prominent features

A

x linked recessive
hyperuricemia d/t abnormal purine metabolism
self injurious behaviour, gout, developmental delays
tx: allopurinol

135
Q

Rett syndrome inheritance

A

MECP2
x linked dominant (the boys die)

136
Q

Rett syndrome investigations

A

mollecular genetics for MECP2 to confirm
ECG for prolonged QTc
EEG for risk seizures

137
Q

suprastar memory aid for which syndrome

A

Williams syndrome
stellate iris
Super personality “cocktail party”
supravalvular aortic stenosis

138
Q

williams syndrome features

A

suprastar
- supravalvular AS
- super personality
- stellate iris
elfin facies
intellectual disability
hernias, rectal prolapse
endo: hypothyroid, hypercalcemia

139
Q

williams syndrome investigations

A

chromosomal microarry for dx
serum/urine calcium (hypercalcemia)
thyroid function (hypothyroid)
echo (supravalvular AS)
renal bladder US
hearing screen
optho

140
Q

timing of PSG for baby with achondroplasia

A

often before leaving hospital d/t risk of central apneas due to foramen magnum stenosis

may need head imaging as well to assess for degree of stenosis

141
Q

growth hormone for achondroplasia

A

no role - ineffective

142
Q

precautions for patients with achondroplasia

A

avoid contact sports, diving, gymnastics d/t risk of atlantoaxial instability

respiratory insufficiency d/t central apneas - routine management of sleep apnea

143
Q

activity avoidance for marfan vs. ehlers danlos

A

Marfan
- weight lifting and contact sports
- wind instruments/scuba diving (ptx)
- pregnancy is high risk

Ehlers danlos
- activities with high strain on joints
- weight lifting IF aortic dilation

144
Q

marfan syndrome eye finding

A

ectopia lentis

145
Q

ectopia lentis ddx

A

Marfan (most common cause)
- usually bilateral and occurs most often in the superotemporal direction

Homocystinuria (second most common)
- usually bilateral and in 60% of cases occurs in the inferior or nasal direction

146
Q

medications used in osteogenesis imperfecta

A

bisphosphonates
growth hormone

147
Q

pierre robin features plus myopia and skeletal abnormalities

A

Stickler syndrome

148
Q

who hates genetics the most?

A

Michelle (WRONG!)

John

149
Q

syndromes associated with omphalocele

A

T21
beckwith Wiedemann

150
Q

wilms tumor associated conditions

A
  • Beckwith Wiedemann
  • denys drash
  • WAGR
  • Frasier
151
Q

beckwith wiedemann increased tumor risk

A

embryonal tumors
- Wilms (nephroblastoma)
- Neuroblastoma
- hepatoblastoma

*embryonal tumors think blastomas

152
Q

alpers huttenlocher syndrome

A

triad: intractable epilepsy, psychomotor regression, liver disease

autosomal recessive, mitrochondrial

153
Q

leigh syndrome

A

mitochondrial, autosomal recessive

classic findings
- lactic acidosis
- FTT
- hypotonia
- peripheral neuropathy
- hypertrophic cardiomyopathy

154
Q

MELAS

A

mitochondrial encephalomyopathy, lactic acidosis and stroke like episodes

development is normal. symptoms begin in childhood with stroke like episodes

Arginine used for acute treatment of stroke like episodes

mitochondrial inheritance

155
Q

CHARGE Syndrome

A

AD inheritence

C- coloboma
H- heart (conotruncal, arch)
A - atresia choanal
R- retardation of GROWTH
G- GI/GU (microphallus)
E- ear (helix malformation, deafness)
E - extremities (clubfoot, absent tibia, hand anomalies - finger like thumb, hockey stick palmar crease, square palm)

OTHER features
- TEF or esophageal atresia
- dysphagia
- facial palsys
- orofacial clefts

156
Q

investigations for CHARGE syndrome

A

C - ophtho
H - echo
A - temporal bone CT
r
G - renal bladder US
E - audiology

157
Q

how many features do you need for vacterl

A

at least 3 of the following

Vertebral
Anal atresia
Cardiac
TE fistula
Renal anomalies
Limb anomalies

158
Q

rhizomelic long bone shortening

A

proportionally shorter proximal limb bones compared to distal long bones

seen in achondroplasia

159
Q

eye problems in Marfans

A

ectopia lentis (up and out)
glaucoma
cataracts

160
Q

homocystinuria

A

similar to marfans
marfanoid body habitus
ectopia lentis (down)
intellectual disability!!
thrombotic events!!

dx: measure serum homocysteine levels

161
Q

hypertension in NF1

A

screen for renal artery stenosis and pheo

162
Q

ectodermal dysplasia

A

can’t sweat – at risk of hyperthermia
conical teeth

163
Q

hypotonia, gavage feeding and puffy hands and feet with cryptorchidism newborn

A

prader willi

164
Q
A
165
Q

key pearl for urea cycle defect

A

High ammonia
may be alkalotic or mildly acidotic
low urea!

166
Q

key pearl for organic acidemia

A

profound metabolic acidosis (much more than urea cycle defect)
also have high ammonia
normal urea

167
Q

Phenylketonuria

A

aminoacidopathy
autosommal recessive
incidious onset! no crisis
features: microcephaly, GDD, rash, mood

NMS is usual diagnosis
tx: breast milk or phenylalanine free formula

168
Q

homocystinuria

A

looks like marfan’s but will have intellectual disability and can have recurrent thrombosis
ectopia lectis (down)

no metabolic crisis
life long methianine avoidance

169
Q

maple syrup urine disease

A

autosomal recessive
presents with acute crisis
–> headache, lethargy, vomiting
neonate: hypertonic, coma

high ketones!

170
Q

methylmalonic acidemia

A

organic acidemia
presents with metabolic acidosis and high ammonia and high urea

elevated urine organic acids

171
Q

OTC deficiency

A

urea cycle defect
high ammonia!!! low/normal urea!!
x linked (but females can be affected)
liver transplant is curative

172
Q

glycogen storage disease

A

metabolic acidosis but NO ammonia elevation
presents after a few months when infant starts stretching feeds
unable to store/use glycogen so goes hypoglycemic with fasting BUT able to make ketones (unlike FAOD) so therefore ketotic hypoglycemia

173
Q

pompe disease

A

glycogen storage disorder type 2 (doesn’t really present like glycogen storage disease type 1 - no hypoglycemia, rarely any lab findings, mainly problems with glycogen storage deposition)
- cardiomegaly
hypotonia
hepatosplenomegaly

174
Q

baby with hypotonia, respiratory insufficiency, cardiomegaly and ECG with short PR interval - what condition?
Prader Willi
Noonans
neonatal lupus
Pompe disease

A

pompe disease (Glycogen storage type 2)

175
Q

condition that causes a false positive newborn screen for galactossemia

A

G6PD

176
Q

fatty acid oxidation disorder presentation

A

crisis during times of fasting or poor intake
hypoketotic hypoglycemia –> lethargy, sz, coma
may have hepatitis
dx with acylcarnitine profile (increased) and carnitine profile (decreased)

acute tx: high dextrose infusion. No lipids!
avoid prolonged fasting

177
Q

bone finding in congenital hypothyroidism

A

distal femoral epiphysis is often absent on xray

2023 RC Blue's Clues (20 decks)

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