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Ped 5 (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
Treacher-Collins: features OMENS *intelligence normale
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
26
Nager syndrome -incidence - transmission - gène en cause
autosomal récessif *incidence très rare, env 300 cas dans la littérature
27
Nager: features
idem à Treacher-Collins mais: (plus symétrique?) pas de Coloboma **Déformation des main: hypoplasie ulna/radius
28
3 syndromes associés à l'hypoplasie du pouce
Anémie de Fanconi Syndrome de CHARGE Syndrome Holt-Oram
29
3 caractéristiques du syndrome de TAR
aplasie bilatérale des radius pouces normaux thrombocytopénie
30
3 anomalies des mains pouvant être présentes dans le syndrome de Nager
hypoplasie ulna-radius aplasie du pouce clinodactylie
31
qu'est-ce que la classification de OMENS
gradation de la sévérité des microsomies craniofaciale selon: Orbite, Mandibule, Ears, facial Nerve, Soft tissue
32
Binder syndrome -incidence - transmission
1 : 10 000 autosomal récessif
33
Binder syndrome 6 caractéristiques du nez 2 caractéristiques du lower face
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
34
Mobius syndrome -incidence - transmission - cause embryologique
1 : 50 000 AD vs AR vs sporadique agenesis of cranial nerve nuclei
35
Mobius: caractéristiques physiques - nerfs atteintes - système oral / GI - craniofacial - extrémités
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
36
3 syndromes associés au mobius
Kippel-Feil Poland Kallman
37
Parry-Romberg syndrome - autre nom - % bilatéral - âge début du onset
atrophie hémifaciale progressive 5% 10 ans
38
Parry-Romberg: features
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
Dysplasie fibreuse: mutation
gène GNAS
40
Dysplasie fibreuse: 3 types
Monostotic (MFD) Polyostotic (PFD) McCune Albright (PFD + cafe au lait + endocrinopathies (hyperT4, cushing, puberté précoce)
41
Qu'est-ce qui caractérise le Cherubisme?
-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
Qu'est-ce qui caractérise le Klippel-Feil syndrome
fusion of >2 cervical or thoracic vertebrae torticollis short, webbed neck low posterior hairline spina bifida abnormal kidneys
43
Turner: features
small stature low posterior hairline cou palmé gonadal dysgenesis broad chest, widely spaced nipples epicanthal folds, narrow maxilla, hypoplastic mandible
44
Turner - incidence - transmission - anomalie génétique
- 1 : 5000 - lié à l'X - délétion d'un chromosome X
45
Klinefelter - incidence - anomalie génétique
1 : 1000 XXY
46
7 caractéristiques du Klinefelter
Grand infertiles ostéoporose retard de langage petits testicules hanches larges DVT plus à risque
47
Beckwith Weidemann: features
macroglossia macrosomia maxillary hypoplasia, class 3 malocclusion hemihypertrophy → macrodactyly abdominal wall defects: omphalocele hypoglycemia Above average birth weight
48
association VACTERL
Vertebral anomalies Anal atresia Cardiac defects Tracheo Esophageal fistula Esophageal atresia Renal anomalies Limb anomalies (RLD)
49
3 syndromes pouvant être avoir une association VACTERL
Klippel-Fiel Goldenhar trisomy 18
50
Blepharophimosis
blepharophimosis (LPS fibrosis) epicanthus inversus telecanthus inverted epicanthal fold
51
Blepharophimosis: traitement et pourquoi
correction chirurgicale pour éviter le développement de l'amblyopie de privation
52
Neurofibromatose - 1 - incidence - mutation - transmission - autre nom
1 : 3000 gène NF1 autosomal dominant Von Recklinghausen's disease
53
Neurofibromatose - 1: critères dx >2 parmis:
-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
54
8 caractéristique oculaires possibles pour NF-1
Optic gliomas lisch nodules greater wing of sphenoid dysplasia enlargement of the eyelids excessive ptosis pulsating proptosis eye pain epiphora
55
Neurofibromatose - 2 - incidence - gène - transmission - cactéristique principale
- Incidence 1: 35 000 - Gène NF2 - AD - Développement de neurinomes acoustiques bilat
56
Séquence Pierre Marie Robin: 4 syndromes associés (30%)
Stickler VCF Treacher Collins Nager
57
Séquence Pierre Marie Robin: incidence
1 : 8500 à 1: 14 000
58
Séquence Pierre Marie Robin: features - triade - airway - oreille - difficulté à se nourrir (3 raisons)
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
59
Séquence Pierre Marie Robin: prise en charge
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
60
Stickler - incidence - mutation - transmission
- 1: 10 000 - COL2A1 - autosomal dominant
61
Stickler : features - eye - face - ears - msk
eye: myopia, strabismus, detached retina, cataracts, glaucoma face: hypoplastic mandible, flat midface + nose***, long philtrum CP ears: progressive SNHL MSK: arthropathies
62
Velocardiofacial (Shprintzen) - incidence - mutation - transmission
1: 2000 délétion 22q11 (dx avec FISH) autosomal dominant
63
Velocardiofacial (Shprintzen) : features - cerveau - craniofacial - oreilles - msk - cardio vasc
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
64
Van Der Woude - incidence - mutation - transmission
1 : 100 000 autosomal dominant IRF6
65
Van Der Woude : features - oro-facial (4) - autre (2)
CL/P (19%), bifid uvula, bilateral lower lip pits hypodontia - absent 2nd molars, or other teeth Autre: anomalies GU, syndactylie
66
Waardenberg - cause
defect of neural crest cell migration + melanin synth
67
Waardenberg
CL/P SNHL telecanthus isohypochromia irisis (pale blue iris) or different colored irises absence of melanocytes - vitiligo mèche de cheveux blanche
68
CLOVES - mutation
PIK3CA
69
CLOVES: features
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
70
Avec quelle tumeur le syndrome de CLOVES est-il associé et à quelle incidence
Wilm's tumor (néphroblastome) 3.3% vs 0.01% population générale faire échoe abdo
71
Maffucci - mutation - transmission
IDH1 sporadique
72
Maffuci: features - os - vasculaire (2) - 3 néo associés
enchondromatosis* spindle cell hemangiomas venous malformations* other malignancies: Gliomas, ovary, pancreas
73
% de transformation en chondrosarcome d'un Maffuci
30%
74
PHACE: features
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
75
Sturge-Weber - incidence - mutation
1 : 50 000 GNAQ sporadique
76
Sturge-Weber: triade
-Port-wine stain (PWS): Malfo capillaire veineuse V1 -Angiomatose leptoméningée ipsilat (convulsion, plégie) -Glaucome
77
Parkes-Weber - mutation
RASA1
78
Parkes-Weber - type de malformation - 2 autres features importantes
Capillaire + MAV high flow Hypertrophie m.inf unilat 1/3 ont cardiac heart failure
79
Klippel-Trenaunay - incidence - mutation
1: 100 000 PIK3CA
80
Klippel-Trenaunay - type de malformation - 2 autres features
capillaire + lymphoveineuse Hypertrophie m.inf unilat Veine marginale de servelle
81
Proteus - mutation
AKT1
82
Proteus - types de malformation - 2 autres features
-CM + LM + VM -naevus du tissus conjonctif cérébriforme plantaire (CCTN) -surcroissance asymétrique also: risque de développement tumoral
83
RENDU-OSLER-WEBER (hereditary hemorrhagic telangiectasia - HHT) - mutation en cause - imagerie nécessaire
AKT1 IRM cerveau (détecter MAV) Echo trans-thorax (détecter shunt poumon) * aussi lorsque > 35 ans, doser Hb pour saignement GI bas bruit
84
RENDU-OSLER-WEBER - 1er signe à l'enfance - type de lésion - endroits des MAV (3)
-épistaxis à l'enfance -lésion vasculaire peau et muqueuse - MAV poumon, foie, cerveau
85
BLUE RUBBER BLEB nevus syndrome (BRBNS) - bean syndrome - principale feature - traitement
-malfo veineuse GI et cutané (allure de nevus bleu) - inhibiteur mTOR (sirolimus)
86
2 syndromes associés à Wilms tumor
CLOVES Beckwith Weidemann
87
OMENS: 3 caractéristiques de l'orbite
Déplacement inférieur du canthus latéral Petite fissure palpébrale Microphtalmie
88
OMENS: 5 caractéristique de la mandibules
Hypoplasie du rameau + condyle Occlusal cant Crossbite Classe III Diminution de la hauteur du maxilla
89
OMENS: 3 caractéristiques de l'oreille
Preauricular tags Conductive hearing loss Microtie
90
OMENS: 5 caractéristiques des tissus mous
Temporal hollowing Hypoplasie glande parotide Hypoplasie muscles mastication Hypoplasies tissus mous joue Macrostomie
91
nommer la triade du syndrome d'Adams-Olivier
1. aplasie cutis congenita au scalp 2. malformation des membres (surtout brachy ou syndactylie 3. cutis marmota telangiectatica
92
quel est le LUMBAR association
Lower body infantile hemangioma Urogenital anomalies Myelopathy Bony deformities Anorectal malformations Renal anomalies
93
4 syndromes qui ont des webbed neck
Noonan Klippel-Feil Turner Black-Fan Diamond
94
caractéristiques du syndrome de CHARGE
Colobomas Heart defect Atrésie choanes Retard Growth G-U anomalies Ear anomalies

UdeM PS questions (52 decks)

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