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Pediatrics > Syndromes > Flashcards

Syndromes Flashcards

1
Q

Cardiac defect commonly seen in Noonan Syndrome

A

Pulmonary valve stenosis

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2
Q

Cardiac defect commonly seen in Turner Syndrome

A

Coarctation of aorta or Bicuspid aortic valve

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3
Q

Inheritance for Marfan Syndrom

A

Autosomal dominant

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4
Q

Ophthalmologic manifestations in Marfan Syndrome

A

Ectopia lentis - upward and temporal displacement of lens of eye

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5
Q

Clinical differences between Homocystinuria and Marfan Syndrome

A

Lens displaced downwards
Mental retardation
Thrombosis

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6
Q

Klinefelter Syndrome: Karyotype

A

47 XXY

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7
Q 
Male
Small testes
Socially awkward but normal intelligence
Delayed speech
Mild motor delay
Disease?
A

Klinefelter Syndrome

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8
Q 
Neonatal hypotonia
Failure to thrive as infant but now has obesity
Mild Intellectual disability
Small testicles
Small hands and feet
Disease?
A

Prader-Willi Syndrome

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9
Q 
Fair hair
Ataxia and abnormal jerky movements
Frequent laughter and easy excitability
Seizures
Severe developmental delay
Disease?
A

Angelman Syndrome

Happy puppet

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10
Q

Gene affecting Prader-Willi and Angelman Syndrome

A

15q11-13

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11
Q

Macrosomia & macroglossia
Hemihypertrophy
Omphaocele
Disease:

A

Beckwith Wiedemann Syndrome

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12
Q

Electrolyte abnormality associated with Williams Syndrome

A

Hypercalcemia

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13
Q

VACTER-L Syndrome

A 
Vertebral defects
Anal atresia
Cardiac defects
TE fistula
Radial hypoplasia and Renal abnormalities

Limb abnormalities

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14
Q

Syndrome with broad thumbs + cryptoorchidism

A

Rubinstein-Taybi (Thumby) Syndrome

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15
Q

Syndrome with triangular face, hemihypertrophy and growth retardation

A

Russell Silver Syndrome

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16
Q 
Facial deformity
Small lower jaw
Conductive hearing loss
Normal intelligence
Disease?
A

Treacher Collins Syndrome

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17
Q

Inheritance of Treacher Collins

A

Autosominal dominant

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18
Q

Cause of sudden death in achondroplasia

A

Cervicomedullary junction compression

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19
Q

Cause of Fragile X Syndrome

A

Repeat of CGG trinucleotide on X chromosome

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20
Q

Most common single gene cause of Autism Spectrum Disorder

A

Fragile X

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21
Q 
Male
Mild intellectual disability
Long narrow face, prominent forehead, portruding ears
Macroorchidism
Disease?
A

Fragile X

Think Prince Charles

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22
Q 
Females only
Autistic-like behavior
Wringing hands
Episodic apnea and hyperpnea
Regression of developmental milestones at 1-2 years
A

Rett Syndrome

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23
Q 
Metabolic disorder presenting with
Hypoglycemia
Hepatomegaly
No reducing substances or ketones in urine
Normal serum amino acid
Group of disease?
A

Defects in Fatty Acid Metabolism

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24
Q 
Metabolic disorder presenting with
Elevated ammonia
Acidosis
Ketonuria
Group of disease?
A

Organic Acidemias

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25
Q 
Metabolic disorder presenting with
Elevated ammonia
No acidosis or ketosis
Hypotonia and coma
Group of disease?
A

Urea Cycle Defects

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26
Q

Treatment for galactosemia

A

Soy-based formula

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27
Q

Definitive diagnosis for galactosemia

A

Measuring GALT in RBCs

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28
Q

Treatment for refractory hypoglycemia in infants

A

Diazoxide

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29
Q

Hypoglycemia
Hypertonia
Profound lethargy
First week of life

A

Maple Syrup Urine Disease

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30
Q

Treatment for homocystinuria

A

Pyridoxine

Diet high in cystine and low in methionine

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31
Q

WAGR Syndrome

A 
Wilms tumor
Aniridia
Genitourinary malformation
Mental Retadation
Deletion of the 11p13-
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32
Q

Newborn with

  • Soft skull
  • Short, bowed limbs
  • X-rays of long bones show a “crumpled appearance”
  • Ribs beaded with callus formation
  • Multiple fractures
A

Osteogenesis Imperfecta Type 2

most severe form with death in neonatal period

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33
Q

Child with

  • Partial albinism
  • White forelock
  • Premature graying
  • Iris heterochromia
  • History of cleft lip
  • Cochlear deafness
  • Hirschsprung’s Disease
A

Waardenburg Syndrome I

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34
Q

Newborn with

  • LGA
  • Macrocephaly
  • Prominent forehead
  • Hypertelorism
  • Intellectual disability
  • Large hands or feet
A 
Sotos Syndrome
(Autosomal dominant)
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35
Q

18 year old with

  • Hearing loss
  • Tinnitiis
  • Imbalance
  • Facial weakness
  • Opaque lens with right eye with cataract
A

Neurofibromatosis Type 2

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36
Q

ACE Inhibitor increase the risk of what congenital abnormalities

A

Renal Dysgenesis
Oligohydramnios
Skull Ossificiation Defects

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37
Q

Newborn with

  • Mandibular and maxillary hypoplasia
  • Zygomatic arch clefts
  • Ear malformations including microtia, anotia, atresia
  • Downsloping palpebral fissures
  • Colobomata of the lower eyelids
  • Conductive hearing loss
A

Treacher-Collins Syndrome

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38
Q

Newborn with

  • IUGR
  • Hirsutism
  • Down-turned mouth
  • Micrognathia
  • Low hairline
  • Long eyelashes
  • Thin upper lip
  • Cardiac defects
  • Micromelia (hands/feet)
  • 2,3 syndactyly of toes
A

Cornelia De Lange Syndrome

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39
Q

6 year old boy with

  • Periorbital fullness
  • Prominant, down-turned lower lip
  • A very friendly personality
  • Stellate pattern of the iris
  • Intellectual disability
A

Williams Syndrome

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40
Q

1 year old with

  • White sclerae
  • History of fractures at birth
  • Tibial bowing
  • Delayed fontanelle closure
A

Osteogenesis Imperfecta Type IV

Tibial bowing is hallmark

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41
Q

10 year old with

2 or more hemangioblastomas in the cerebellum or retina

A

von Hippel-Lindau Syndrome

Autosomal dominant

42
Q

Disorder with

  • AD inheritance
  • Bile duct paucity with cholestasis
  • Pulmonary valve stenosis and peripheral artery stenosis
  • Posterior embryotoxon
  • Butterfly vertebrae
  • Triangular face with pointed chin
  • Long nose with broad mid-nose
A

Alagille Syndrome

43
Q

2 most common GI disease associated with Downs Syndrome

A

Duodenal atresia

Hirschsprung’s Disease

44
Q

Most common cardiac defect in Trisomy 18

A

VSD

45
Q

3 year old with

  • Blue sclerae
  • Delayed fontanelle closure
  • Hyperextensible joints
  • Normal stature
  • Hx of 3 fractures but none at birth
A

Osteogenesis Imperfecta Type 1

46
Q

Newborn with

  • Numerous fractures
  • Severe short stature
  • Blue sclerae
  • Hydrocephalus
  • Basilar skull invagination
A

Osteogenesis Imperfecta Type 3

Neurological complications more common in Type 3

47
Q

Which virus during pregnancy increases the risk of developing congestive heart failure

A

Parvovirus B19

48
Q

What cancer is most likely to occur in a child with Down Syndrome

A

ALL

49
Q

Newborn with

  • Craniosynostosis
  • Brachycephaly
  • Hypertelorism
  • Strabismus
  • Maxillary hypoplasia
  • Narrow palate
  • Syndactyly
  • Single nails
  • Broad thumbs
A

Apert Syndrome

50
Q

Newborn with

  • Brachycephaly
  • Frontal bossing
  • Wormian bones
  • Hypoplastic/absent clavicles
  • Joint laxity
A

Cleidocranial Dysostosis

51
Q

3 month old with

  • Macrodactyly
  • Soft tissue hypertrophy
  • Hemihypertrophy
  • Lipomas
  • Hemangiomata
  • Accelerated growth
A

Proteus Syndrome

52
Q

Infant with

  • Pancytopenia
  • Hypoplastic thumb and radius
  • Hyperpigmentation
  • Abnormal facies
A

Fanconi anemia

53
Q

What is the most common cardiac finding in an infant with tuberous sclerosis

A

Cardiac Rhabdomyomas

54
Q

Infant with infantile spasms have a 50% risk of developing later in childhood:

A

Tuberous Sclerosis

55
Q

Newborn with

  • Midline cleft lip
  • Microphthalmia
  • Postaxial polydctyly of the limbs
  • Holoprosencephaly
  • Absent ribs
  • Cutis aplasia
A

Trisomy 13 (Patau Syndrome)

56
Q

Newborn with

  • Ocular hypertelorism
  • Prominent glabella
  • Frontal bossing
  • Micocephaly
  • Beaked nose
  • Short philtrum
  • Hypotonia
  • Seizures
A

Wolf-Hirschhorn Syndrome
4p- deletion
Greek Helmet facies

57
Q

Newborn with

  • Moon face
  • Down-slanting palpebral fissures
  • Hypotonia
  • Microcephaly
  • High-arched palate
  • Wide and flat nasal bridge
  • Unusual cry pitched like a cat
A

Cri-Du-Chat Syndrome

5p- deletion

58
Q

Newborn with

  • Everted lower lip
  • “Frog-like” position with legs flexed, externally rotated and in hyperabduction
A

de Grouchy Syndrome
Grouchy-looking frog
18q- deletion

59
Q

What endocrine disorder should be screened for at 3, 6, and 12 months of age in child with Downs?

A

Hypothyroidism

60
Q

CATCH 22

A 
Cleft palate
Absent 
Thymus
Congential 
Heart disease

22q11.2-

61
Q
  • Perrier Robin sequence
  • Flat face
  • High myopia
  • Cataracts
  • Hearing loss
A

Stickler Syndrome

62
Q

Elevated maternal serum AFP: Disease (4)

A

Open neural tube defects
Genitourinary defects
Gastrointestinal defects
Turner Syndrome

63
Q

Decrease maternal serum AFP: Disease

A

Trisomy 18

Trisomy 21

64
Q

Diagnostic test for Tay-Sachs Disease

A

Hexosaminidase A assay.

65
Q

Differences between Shwachman-Diamond Syndrome and Cystic Fibrosis

A

Shwachman-Diamond Syndorme has

  • Pancytopenia
  • Normal electrolytes
  • No hx of chronic pulmonary problems
  • Sweat test normal
66
Q

Autosomal dominant
Multiple family members with hematuria and RBC casts
Syndrome:

A

Thin Glomerular Basement Membrane Disease

Benign Familial Hematuria

67
Q 
Autosomal dominant
Hypoplasia or absence of the patellae
Dystrophic nails
Dysplasia of the elbows
Renal disease with microhematuria and mild proteinuria with 10% progress to ESRD
A

Nail-Patella Syndrome

68
Q

Klippel-Feil Syndrome

A

Congenital fusion of the cervical spine with low occipital hairline

69
Q

Sprengel Deformity

A

Failure of the scapula to descend to its normal position during fetal development

70
Q 
Male baby
Thrombocytopenia
Eczema
Recurrent infection
Disease?
A

Wiskott–Aldrich syndrome

71
Q 
Presents in 1st year of life
Renal tubular acidosis
Rickets
Poor growth
Episodic neurological crisis
Disease?
A

Hereditary Tyrosinemia

72
Q 
Presents in first few days of life
Ketouria
Decreased feeding 
Encephalopathy
Coma
Disease?
A

Maple Syrup Urine Disease

73
Q

Near death episode that begins with diving into water. Disease?

A

Long QT Syndrome Type 1

74
Q

Elevated alpha fetoprotein: Disease?

A

Hepatoblastoma

75
Q

Average gain in height after menarche

A

7.5 cm

76
Q

When can immunization be administered after transplantation

A

Cannot administer live vaccine

Inactivated vaccine after 6 months

77
Q

Second primary cancers in someone with retinoblastoma

A

Osteosarcoma
Pineal gland tumors
Soft tissue sarcomas
Melanomas

78
Q 
X linked recessive disease causing
- sparse light pigmented hair
- poorly functioning sweat glands
- Conical teeth
Disease?
A

Ectodermal hypoplasia

79
Q

Icthyoses: Disease

A

Urea and Lactic Acid Creams

80
Q

Tuberous Sclerosis: Inheritance

A

Autosomal dominant

81
Q

Jarisch-Herxheimer Reaction

A

Child being treated for Lyme Disease who then develops chills and fevers and hypotension (due to lysis of organism and release of endotoxin)

82
Q

Treatment for psoriasis (3)

A

High potency corticosteriods
Vit D3 analogs (calcipotriene)
Calcineurin inhibitors

83
Q

Treatment for tinea capitus

A

Oral Griseofulvin

Oral Terbinafine

84
Q

Staphylococcal scaled skin syndrome: Definitive diagnosis

A

Skin biopsy and culture

not blood culture

85
Q

Acrodermatitis enteropathica: Cause

A

Malabsorption of Zinc through intestinal cells

86
Q

Arrest of head growth
Regression of language development
Hand-wringing
Disease?

A

Rett Syndrome

87
Q

Most common cause of asthma exacebration

A

Rhinovirus

88
Q

Bernald-Soulier Syndrome

A

Disorder of platelet adhesion

89
Q

Glanzmann Thrombasthenia

A

Disorder of platelet aggregation

90
Q 
Child or adolescent with
- Slow and clumsy gait
- Decreased reflexes
- Eye movement abnormalities
- Cardiomyopathy
Disease:
A

Friedreich Ataxia

91
Q

Landau-Kleffner syndrome

A

Acquired epileptic aphasia

92
Q

Bone marrow failure

Exocrine pancreatic insufficiency

A

Shwachman-Diamond syndrome

93
Q

Screening for Beckwith Wiedemann Syndrome

A

Serum alpha-fetoprotein every 3 months for embryonal tumors & hepatoblastoma
Abdominal US for Wilms tumor every 3 months

94
Q

Bartter Syndrome: Cause?

A

Defect in sodium chloride reabsorption in the medullary thick ascending limb of the loop of Henle == chronic furosemide therapy

95
Q

Gitelman syndrome: Cause?

A

Defect in thiazide-sensitive Na-Cl transporter in the distal tubule

96
Q

Bartter vs Gitelman Syndrome

A

Gitelman Syndrome has lower urinary Ca and hypomagnesemia

97
Q

Hyperkalemia in RTA: Which Type

A

Type 4

98
Q

Development delay then regression
Self-injurious behavior
Nephrolithiasis

A

Lesch-Nyhan syndrome

99
Q

Lesch-Nyhan syndrome: Best screening test

A

Urine urate to creatinine ratio

100
Q

Decreased Hypoxanthine-guanine phosphoribosyltransferase enzyme activity: Diagnosis

A

Lesch-Nyhan syndrome

101
Q

Most life-threatening result of clonidine ingestion

A

Hypotension

Pediatrics (3 decks)

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