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Questions pratiques de l'Université Montréal > Syndromes pédiatriques > Flashcards

Syndromes pédiatriques Flashcards

1
Q

Apert syndrome:
- incidence
- transmission
- gène en cause
- type ACS

A

1:100 000
Autosomal dominant
FGFR2
acrocéphalosyndactylie type 1

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2
Q

Apert syndrome : features
- crâne
- orbite
- midface
-extrémités
- peau
- coeur

A

Crâne: turribrachycephaly, HTIC, retard mental
orbits: hypertelorism, exorbitism, antimongoloid slant
midface: hypoplastic, class III malocclusion, cleft palate
extremities: severe syndactyly of hands + feet (bilateral)
thumb clinodactyly, symphalangism (D2-5), complicated syndactyly 2+3rd web spaces
peau: acne
coeur: ASD, VSD
renal anomalies

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3
Q

Décrire le grade 1 de la classification de Upton pour la Apert Hand

A

1er web: syndactylie simple
Middle 3 fingers: fusion side-to-side + paume plate
4e web: syndactylie simple incomplète

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4
Q

Décrire le grade 2 de la classification de Upton pour la Apert Hand

A

1er web: syndactylie simple
Middle 3 fingers: fusion dorsum des doigts donnant une paume concave
4e web: syndactylie simple complète

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5
Q

Décrire le grade 3 de la classification de Upton pour la Apert Hand

A

1er web: syndactylie complexe
Middle 3 fingers: fusion de tous les doigts avec synonychie
4e web: syndactylie simple complète + fusion 4e 5e MC

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6
Q

Crouzon
- incidence
- transmission
- gène en cause

A

1:50 000
Autosomal dominant
FGFR2

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7
Q

Crouzon : features
- crâne
- cerveau/intelligence
- orbite
- midface
- extrémités

A

crâne: brachycéphalie, HTIC
brain: normal intelligence, Chiari malformation (herniation of cerebellar tonsils through foramen magnum)
orbits: hypertelorism, exorbitism, antimongoloid slant
midface: hypoplastic, beaked nose, classe III
extremities: normal
ORL: CP, high arched palate, perte auditive conductive

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8
Q

Pfeiffer syndrome
- incidence
- transmission
- gène en cause
- type ACS

A

1:100 000
Autosomal dominant
FGFR2 (95%)
FGFR1 (5%)
acrocéphalosyndactylie type 5

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9
Q

Pfeiffer : features
- crâne
- cerveau/intelligence
- orbite
- midface
- extrémités

A

crâne: turribrachycephaly
brain: normal intelligence
orbits: shallow, hypertelorism, exorbitism, strabisme
midface: hypoplastic, classe III
extremities: BROAD THUMB and great toes, mild syndactyly

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10
Q

Décrire les 3 types du syndrome de Pfeiffer

A

1: craniosynostose bicoronale, pouce/hallux large, intelligence normale

2: cloverleaf skull, atteinte SNC sécère, synostose coude, mort jeune âge

3: idem à 2 mais sans le cloverleaf skull

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11
Q

Saethre-Chotzen syndrome
-incidence
- transmission
- gène en cause
- type ACS

A

1: 25 000 - 50 000
Autosomal dominant
TWIST-1
acrocéphalosyndactylie type 3

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12
Q

Saethre-Chotzen : features
- crâne
- cerveau/intelligence
- orbite
- midface
- extrémités

A

cranium: asymmetric brachycephaly, low frontal hairline*
brain: normal intellignece
orbits: upper eyelid ptosis, hypertelorism, exorbitism
midface: mild hypoplastic
extremities: partial syndactyly, short stature
other: GU (cryptorchidism)

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13
Q

Carpenter syndrome
-incidence
- transmission
- gène en cause
- type ACS

A

1 in a milion
autosomal récessif
mutation RAB23

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14
Q

Carpenter: features
*** looks like a monkey
- crâne
- cerveau/intelligence
- orbite
- midface
- extrémités
- coeur
- autre (1)

A

cranium: asymmetric brachycephaly
brain: MR
orbits: hypertelorism, exorbitism
midface: low set ears*
extremities: simple syndactyly, pre-axial polydactyly of the feet, short stature*
coeur: VSD/ASD
autre: obésité*

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15
Q

Muenke syndrome
-incidence
- transmission
- gène en cause
- type ACS

A

1:30 000
Autosomal dominant
FGFR3

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16
Q

Muenke: features
- crâne
- cerveau/intelligence
- orbite
- midface
- extrémités
- autre (1)

A

cranium: bilateral > unilateral coronal synostosis
brain: dev delay
orbits: hypertelorism
midface: hypoplastic, high arched palate
extremities: carpal and tarsal coalitions
*thimble-like middle phalanx
others: SNHL

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17
Q

Nommer 6 syndromes associés à des craniosynostose

A

Apert
Crouzon
Pfeiffer
Saethre-Chotzen
Carpenter
Muenke

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18
Q

Microsomie hémifaciale
-incidence
- latéralité
- gène en cause
- autre nom

A
  • 1:3500
  • 90% unilatéral, 10% bilatéra
  • mutation sporadique
  • oculo-auriculo-vertebral spectrum
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19
Q

5 causes hypothétiques de la microsomie hémifaciale

A

facteurs génétiques
perturbation vasculaire (art stapedial)
facteurs environnementaux
tératogènes
diabète maternel

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20
Q

Caractéristiques OMENS pour la microsomie hémifaciale

A

O: inferior displacement lat canthus, small palpebral fissure, microphthalmia
M: hypoplasia ramus+condyle, occlusal cant, cross bite, class III malocclusion, ↓ vertical height maxilla, hypoplastic + absent arch
E: preauricular tags, CHL, microtia
N: CN VII palsy, hydrocephalus
S: temporal hollowing, hypoplastic soft tissues of cheek + muscles of mastication, parotid gland hypoplasia, macrostomia, VPI

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21
Q

Décrire la classification de Pruzansky pour l’hypoplasie mandibulaire

A

I: mild hypoplasia ramus, N morphology
II: hypoplasia + abN morphology of ramus + condyle
A. normal glenoid fossa: condyle relationship (good function)
B. hypoplastic + medially-displaced condyle (restricted function)
III: complete agenesis of ramus + TMJ

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22
Q

Goldenhar
- latéralité
- mutation

A

plus souvent atteinte bilat
mutation sporadique

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23
Q

Goldenhar: features
- visage
- yeux
- MSK
- coeur

A

face: microsomie hémifaciale, skin tag pré-auriculaire, CL/P
yeux: dermoids épibulbaires, colobomas paupière, microphtalmie
MSK: anomalie vertébrale* (fusion)
malformation cardiaque

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24
Q

Treacher-Collins
-incidence
- transmission
- gène en cause

A

1:10 000
autosomal dominant
gène TCOF1

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25
Q

Treacher-Collins: features OMENS
*intelligence normale

A

O: coloboma* outer 1/3 lower lid, absent medial lower eyelashes, antimongoloid slant, hypertelorism, absence rebord orbitaire inf
M: bilat + symmetric hypoplasie* of zygoma, maxilla, mandible, rétraction paupière inf, microrégtrognatisme
class II malocclusion, CL/P, VPI, choanal atresia
CF clefts 6, 7, 8 incomplete
convex facial profile
E: microtia*, EAC atresia, CHL
N: protruding nose, parrot beak

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26
Q

Nager syndrome
-incidence
- transmission
- gène en cause

A

autosomal récessif
*incidence très rare, env 300 cas dans la littérature

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27
Q

Nager: features

A

idem à Treacher-Collins mais: (plus symétrique?)
pas de Coloboma
**Déformation des main: hypoplasie ulna/radius

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28
Q

3 syndromes associés à l’hypoplasie du pouce

A

Anémie de Fanconi
Syndrome de CHARGE
Syndrome Holt-Oram

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29
Q

3 caractéristiques du syndrome de TAR

A

aplasie bilatérale des radius
pouces normaux
thrombocytopénie

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30
Q

3 anomalies des mains pouvant être présentes dans le syndrome de Nager

A

hypoplasie ulna-radius
aplasie du pouce
clinodactylie

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31
Q

qu’est-ce que la classification de OMENS

A

gradation de la sévérité des microsomies craniofaciale selon:
Orbite, Mandibule, Ears, facial Nerve, Soft tissue

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32
Q

Binder syndrome
-incidence
- transmission

A

1 : 10 000
autosomal récessif

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33
Q

Binder syndrome
6 caractéristiques du nez
2 caractéristiques du lower face

A

Nez:
-short + flat
-obtuse NF angle
-absent cartilaginous septum
-hypoplastic / posteriorly displaced ANS
-pre-nasal fossa depression
-crescent-shaped nostrils
Lower face:
-maxillary retrusion
-class III malocclusion

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34
Q

Mobius syndrome
-incidence
- transmission
- cause embryologique

A

1 : 50 000
AD vs AR vs sporadique
agenesis of cranial nerve nuclei

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35
Q

Mobius: caractéristiques physiques
- nerfs atteintes
- système oral / GI
- craniofacial
- extrémités

A

bilateral CN VII palsies (upper > lower)
bilateral CN VI palsies (65%)
bilabial speech (plosives)
ophthalmoplegia + ptosis: CN III (25%) + CN IV
dysphagia: CN IX + X (<10%)
tongue atrophy: CN IX (<10%)
CF: hypertelorism, epicanthal folds, vertical maxillary excess, class II malocclusion, open bite
extrémités: club foot, syndactyly

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36
Q

3 syndromes associés au mobius

A

Kippel-Feil
Poland
Kallman

37
Q

Parry-Romberg syndrome
- autre nom
- % bilatéral
- âge début du onset

A

atrophie hémifaciale progressive
5%
10 ans

38
Q

Parry-Romberg: features

A

starts in localized area → pigmented streak
coupe de sabre (midline forehead or facial cleft)

soft tissue atrophy in CN V distribution
CNS: epilepsy, trigeminal neuralgia
orbit: Horner’s, enophthalmos, vertical dystopia (2o to orbital fat atrophy)
bony hypoplasia of lower 2/3 - crossbite, occlusal cant

39
Q

Dysplasie fibreuse: mutation

A

gène GNAS

40
Q

Dysplasie fibreuse: 3 types

A

Monostotic (MFD)
Polyostotic (PFD)
McCune Albright (PFD + cafe au lait + endocrinopathies (hyperT4, cushing, puberté précoce)

41
Q

Qu’est-ce qui caractérise le Cherubisme?

A

-symmetric, bilateral fibrous bony overgrowth of mandible + maxilla → soap-bubble appearance
-if lesions are large, may get ectropion, vertical dystopia, airway problems
-pathologically indistinguishable from giant cell granuloma

42
Q

Qu’est-ce qui caractérise le Klippel-Feil syndrome

A

fusion of >2 cervical or thoracic vertebrae
torticollis
short, webbed neck
low posterior hairline
spina bifida
abnormal kidneys

43
Q

Turner: features

A

small stature
low posterior hairline
cou palmé
gonadal dysgenesis
broad chest, widely spaced nipples
epicanthal folds, narrow maxilla, hypoplastic mandible

44
Q

Turner
- incidence
- transmission
- anomalie génétique

A
  • 1 : 5000
  • lié à l’X
  • délétion d’un chromosome X
45
Q

Klinefelter
- incidence
- anomalie génétique

A

1 : 1000
XXY

46
Q

Beckwith Weidemann: features

A

macroglossia
macrosomia
maxillary hypoplasia, class 3 malocclusion
hemihypertrophy → macrodactyly
abdominal wall defects: omphalocele
hypoglycemia
Above average birth weight

47
Q

association VACTERL

A

Vertebral anomalies
Anal atresia
Cardiac defects
Tracheo Esophageal fistula
Esophageal atresia
Renal anomalies
Limb anomalies (RLD)

48
Q

3 syndromes pouvant être avoir une association VACTERL

A

Klippel-Fiel
Goldenhar
trisomy 18

49
Q

Blepharophimosis

A

blepharophimosis (LPS fibrosis)
epicanthus inversus
telecanthus
inverted epicanthal fold

50
Q

Blepharophimosis: traitement et pourquoi

A

correction chirurgicale pour éviter le développement de l’amblyopie de privation

51
Q

Neurofibromatose - 1
- incidence
- mutation
- transmission
- autre nom

A

1 : 3000
gène NF1
autosomal dominant
Von Recklinghausen’s disease

52
Q

Neurofibromatose - 1: critères dx
>2 parmis:

A

-6 taches café au lait (> 5mm chez enfant et 15mm chez adulte (12 ans))
-2 Neurofibromes cutanés ou 1 plexiforme
-Freckles axillaire ou inguinal
-Gliome optique
-+2 Nodules de Lisch (hamartome de l’iris)
-Dysplasie de l’os sphénoide ou des os longs
-1 parent du 1er degré atteint

53
Q

8 caractéristique oculaires possibles pour NF-1

A

Optic gliomas
lisch nodules
greater wing of sphenoid dysplasia
enlargement of the eyelids
excessive ptosis
pulsating proptosis
eye pain
epiphora

54
Q

Neurofibromatose - 2
- incidence
- gène
- transmission
- cactéristique principale

A
  • Incidence 1: 35 000
  • Gène NF2
  • AD
  • Développement de neurinomes acoustiques bilat
55
Q

Séquence Pierre Marie Robin: 4 syndromes associés (30%)

A

Stickler
VCF
Treacher Collins
Nager

56
Q

Séquence Pierre Marie Robin: incidence

A

1 : 8500 à 1: 14 000

57
Q

Séquence Pierre Marie Robin: features
- triade
- airway
- oreille
- difficulté à se nourrir (3 raisons)

A

micrognathia (body) + glossoptosis + upper airway obstruction
airway: laryngomalacia
ears: CHL, OM, auricular deformities
feeding difficulty: U-shaped CP (60-90%) = plus grand gap, abN anatomy, poor neuromuscular control of tongue

58
Q

Séquence Pierre Marie Robin: prise en charge

A

airway: prone, NPA, CPAP, Tongue lip adhesion, FoM release, trach, sleep study, osteog distrac.
feeding difficulty: Haberman nipple, feed at 45o, conc. formula, G-tube
speech: CP repair
ears: BMAT
micrognathia: catch up growth, or orthognathic surgery

59
Q

Stickler
- incidence
- mutation
- transmission

A
  • 1: 10 000
  • COL2A1
  • autosomal dominant
60
Q

Stickler : features
- eye
- face
- ears
- msk

A

eye: myopia, strabismus, detached retina, cataracts, glaucoma
face: hypoplastic mandible, flat midface + nose***, long philtrum
CP
ears: progressive SNHL
MSK: arthropathies

61
Q

Velocardiofacial (Shprintzen)
- incidence
- mutation
- transmission

A

1: 2000
délétion 22q11 (dx avec FISH)
autosomal dominant

62
Q

Velocardiofacial (Shprintzen) : features
- cerveau
- craniofacial
- oreilles
- msk
- cardio vasc

A

CNS: MR, seizures, microcephaly

CF: CP, VPI, vertical maxillary excess, broad nasal dorsum, prominent radix, bulbous nasal tip, narrow alar base, class II malocclusion, malar hypoplasia

Ears: cup ear

CV: tetralogy of Fallot, VSD, medial displacement of ICA’s (25%)
MSK: hyperextensible digits, réetard dév

63
Q

Van Der Woude
- incidence
- mutation
- transmission

A

1 : 100 000
autosomal dominant
IRF6

64
Q

Van Der Woude : features
- oro-facial (4)
- autre (2)

A

CL/P (19%), bifid uvula, bilateral lower lip pits
hypodontia - absent 2nd molars, or other teeth

Autre: anomalies GU, syndactylie

65
Q

Waardenberg
- cause

A

defect of neural crest cell migration + melanin synth

66
Q

Waardenberg

A

CL/P
SNHL
telecanthus
isohypochromia irisis (pale blue iris) or different colored irises
absence of melanocytes - vitiligo
mèche de cheveux blanche

67
Q

CLOVES
- mutation

A

PIK3CA

68
Q

CLOVES: features

A

Congenital Lipomatous Overgrowth

Vascular malformations: surtout lymphatique
- Lipomatous masses on the trunk with overlying vasc malformations

Epidermal nevi
Skeletal anomalies/scoliosis/seizures
-Limb asymmetry: upper limb in 50% of cases
-Wide or triangular feet, syndactyly, macrodactyly, widened gap between 1st/2nd toe webspace

69
Q

Avec quelle tumeur le syndrome de CLOVES est-il associé et à quelle incidence

A

Wilm’s tumor (néphroblastome)
3.3% vs 0.01% population générale
faire échoe abdo

70
Q

Maffucci
- mutation
- transmission

A

IDH1
sporadique

71
Q

Maffuci: features
- os
- vasculaire (2)
- 3 néo associés

A

enchondromatosis*
spindle cell hemangiomas
venous malformations*
other malignancies: Gliomas, ovary, pancreas

72
Q

% de transformation en chondrosarcome d’un Maffuci

A

30%

73
Q

PHACE: features

A

Posterior fossa malformation (Dandy-Walker)
Hemangioma: plaque-like IH in segmental or CN V distribution
Arterial cerebrovascular anomalies
Coarctation of aorta, cardiac defects
Eye + endocrine anomalies
-MRI to r/o cerebrovascular abN → 8% stroke in infancy

74
Q

Sturge-Weber
- incidence
- mutation

A

1 : 50 000
GNAQ
sporadique

75
Q

Sturge-Weber: triade

A

-Port-wine stain (PWS): Malfo capillaire veineuse V1
-Angiomatose leptoméningée ipsilat (convulsion, plégie)
-Glaucome

76
Q

Parkes-Weber
- mutation

A

RASA1

77
Q

Parkes-Weber
- type de malformation
- 2 autres features importantes

A

Capillaire + MAV high flow
Hypertrophie m.inf unilat
1/3 ont cardiac heart failure

78
Q

Klippel-Trenaunay
- incidence
- mutation

A

1: 100 000
PIK3CA

79
Q

Klippel-Trenaunay
- type de malformation
- 2 autres features

A

capillaire + lymphoveineuse
Hypertrophie m.inf unilat
Veine marginale de servelle

80
Q

Proteus
- mutation

A

AKT1

81
Q

Proteus
- types de malformation
- 2 autres features

A

-CM + LM + VM
-naevus du tissus conjonctif cérébriforme plantaire (CCTN)
-surcroissance asymétrique

also: risque de développement tumoral

82
Q

RENDU-OSLER-WEBER
(hereditary hemorrhagic telangiectasia - HHT)
- mutation en cause
- imagerie nécessaire

A

AKT1
IRM cerveau (détecter MAV)
Echo trans-thorax (détecter shunt poumon)
* aussi lorsque > 35 ans, doser Hb pour saignement GI bas bruit

83
Q

RENDU-OSLER-WEBER
- 1er signe à l’enfance
- type de lésion
- endroits des MAV (3)

A

-épistaxis à l’enfance
-lésion vasculaire peau et muqueuse
- MAV poumon, foie, cerveau

84
Q

BLUE RUBBER BLEB nevus syndrome (BRBNS) - bean syndrome
- principale feature
- traitement

A

-malfo veineuse GI et cutané (allure de nevus bleu)
- inhibiteur mTOR (sirolimus)

85
Q

2 syndromes associés à Wilms tumor

A

CLOVES
Beckwith Weidemann

86
Q

OMENS:
3 caractéristiques de l’orbite

A

Déplacement inférieur du canthus latéral
Petite fissure palpébrale
Microphtalmie

87
Q

OMENS:
5 caractéristique de la mandibules

A

Hypoplasie du rameau + condyle
Occlusal cant
Crossbite
Classe III
Diminution de la hauteur du maxilla

88
Q

OMENS:
3 caractéristiques de l’oreille

A

Preauricular tags
Conductive hearing loss
Microtie

89
Q

OMENS:
5 caractéristiques des tissus mous

A

Temporal hollowing
Hypoplasie glande parotide
Hypoplasie muscles mastication
Hypoplasies tissus mous joue
Macrostomie

Questions pratiques de l'Université Montréal (41 decks)

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