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33 Cards in this Set
- Front
- Back
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PHACE Syndrome |
Posterior fossa malformations Hemangioma Arterial lesions Cardiac malformations/aortic coarctation Eye abnormalities |
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Kasabach-Merritt Syndrome |
vascular tumors and consumptive coagulopathy (platelet trapping) |
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Sturge-Weber Syndrome |
Seizures Port-Wine stain Glaucoma Retardation
AKA encephalotrigeminal angiomatosis
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Maffucci syndrome |
Cavernous hemangioma of the H&N Multiple endochondromas with shortening of involved bones
Up to 40% may have malignant degeneration into chondrosarcoma
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von Hippel Landau syndrome |
AD Hemangioblastomas of CNS and retinas Renal cysts/sarcomas Pheochromycytoma Pancreatic cysts Papillary cystadenomas of epididymis
Associated with endolymphatic sac tumors |
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Pierre Robin Sequence |
Triad of: Retrognathia Glossoptosis Cleft palate (secondary to retrognathia)
maybe associated with Stickler or velocardiofacial syndromes |
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Achondroplasia |
Midface hypoplasia frontal bossing short stature shortened limbs long narrow trunk lumbar lordosis limited elbow extension genu varum trident hand
AD, due to mutation of FGFR-3 gene |
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VATER syndrome |
Vertebral/vascular anomalies Anal atresia TracheoEsophageal anomalies Renal/Radial bone anomalies
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VACTERL syndrome |
Same as VATER + cardiac and limb abnormalities:
Vertebral/vascular anomalies Anal atresia Cardiac abnormalities TracheoEsophageal anomalies Renal/Radial bone anomalies Limb abnormalities
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What's the mnemonic for AD pediatric syndromes? |
WANTBCS
Waardenburg Apert (+Pfeiffer's) Neurofibromatosis Treacher Collins Brachio-Oto-Renal Crouzon Stickler |
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Waardenburg Syndrome Type I |
White forelock Dystopia canthorum Synophrys Broad nasal root SNHL (unilateral or bilateral) Heterochromia iridium
PAX3 gene mutation |
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Waardenburg Syndrome Type II |
Same as Type I but no dystopia canthorum
MiTF gene mutation |
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Waardenburg Syndrome Type III |
Same as Type I but limb abnormalities (skeletal dysplasias and muscular hypotonia) |
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Waardenburg Syndrome Type IV |
Same as Type II plus Hirschsprung megacolon AR |
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Crouzon syndrome |
AKA Craniofacial dysostosis
craniosynostosis (premature closure of cranial bones - cause of all below sx) hypertelorism mandibular prognathiusm midface hypoplasia exophthalmos Parrot-beaked nose Varied cognitive function: normal to severe MR
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Apert syndrome |
Very similar to Crouzon syndrome, but have syndactyly
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Pfeiffer's syndrome |
similar to Apert syndrome, but digital broadening rather than syndactyly - associated with tracheal sleeve (complete rings) |
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Neurofibromatosis Type I |
AKA Von Recklinghausen's disease mutation on chromosome 17
Cafe au lait spots Lisch nodules (melanotic hamartomas of iris) Cutaneous neurofibromas Acoustic neuromas (5%) CNS involvement may lead to SNHL, MR, blindness |
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Neurofibromatosis Type II |
Mutation of tumor-suppressor gene on chromosome 22
Bilateral acoustic neuromas (before age 21) Greater CNS involvement than type I
Only FDA-approved indication for auditory brainstem implant |
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Treacher Collins syndrome |
AKA Mandibulofacial dysostosis TCOF1 gene on chromosome 5
Malformations of 1st & 2nd branchial arches
Malformed ossicles Auricular deformity (ie. aural atresia) CHL and SNHL possible Preauricular fistulas Mandibular and malar hypoplasia (Sylvester Stallone) Anti-mongoloid palpebral fissures Coloboma of the lower eyelids +/- cleft lip and palate Normal IQ |
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Stickler syndrome |
Mutation of COL2A1 gene on chromosome 12, responsible for type II collagen
Found in association with Pierre Robin sequence
Myopia with retinal detachment and cataracts Hypermobility and enlarged joints SNHL or MHL +/- cleft palate |
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Branchio-oto-renal Syndrome |
AKA Melnick-Fraser syndrome
Branchial cleft anomalies - cysts/fistulas Otologic malformations - HL, preauricular pits, auricule abnormalities, ossicular and cochlear abnormalities, lacrimal duct stenosis, possible SNHL Renal dysplasia - agenesis, polycystic kidneys, duplicated ureters (get IVP or renal US)
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What's the mnemonic for AR pediatric syndromes? |
PUGJ-AR
Pendred Usher Goldenhar Jarvell-Lange-Nieslen
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Pendred Syndrome |
SNHL associated with defect in iodine metabolism leading to euthyroid goiter Associated with Mondini's dysplasia and enlarged vestibular aqueduct Positive perchlorate discharge test Do genetic testing for pendrin gene mutation |
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Usher syndrome |
HL Vestibular deficits Ataxia ("usher can't dance") Retinitis pigmentosa causing progressive visual loss Types I-IV (I is most common) |
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Goldenhar syndrome |
AKA Oculoauriculovertibral spectrum
Unilateral facial asymmetry Unilateral external and middle ear changes Vertebral malformations Hemifacial microsomia Upper lid coloboma
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Jervell-Lange-Nielsen syndrome |
SNHL - profound bilateral Cardiac: Prolonged QT interval, large T waves Recurrent syncopal episodes
Screen with EKG Tx with beta-blockade |
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Alport syndrome |
X-linked & AR
Progressive SNHL - defect in stria vascularis Renal disease (glomerulonephritis) - defect in renal basement membrane
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Norrie syndrome |
X-linked
Inherited eye disorder - often leads to blindness SNHL - early onset (1/3) Developmental delay or MR (1/2) |
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Otopalatodigital syndrome |
X-linked
Craniofacial anomalies (cleft palate) Widely spaced first and second toes CHL due to ossicular malformation
Type I - mild form Type II - severe form; usually not compatible with life
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Wildervanck syndrome |
AKA Cervico-oculo-acoustic syndrome
Congenitally fused segment of cervical spine (Klippel-Feil malformation) Short, webbed neck SNHL or MHL CN VI paralysis (bilateral) Typically presents in females |
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Velocardiofacial syndrome |
Deletion of 22q11 (like DiGeorge)
Cleft palate Hypernasal speech Pharyngeal hypotonia Structural heart anomalies (most commonly VSD) Dysmorphic facial appearance Slender hands and fingers Learning disabilities Up to 30% have medial displacement of ICA
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DiGeorge Syndrome |
Deletion of 22q11
CATCH-22
Cardiac anomalies (tetralogy of Fallot) Abnormal facies Thymic aplasia (improper development of 3rd and 4th branchial arches) Cleft palate Hypocalcemia/hypoparathyroidism |
