Goldenhar Syndrome

Goldenhar Syndrome

Goldenhar Syndrome rir Svavar Sigmundsson 5.rs lknanemi Goldenhar sx Maurice Goldenhar 1952 Samheiti: Oculo-auriculovertebral spectrum Facio-auriculo-vertibral

anomaly Algengi: 1/3,000 1:45,000 Goldenhar sx. Erfir: Stkkbreytingar skilgreindum httugenum (sporadic)

1% recurrence risk ttlgni sjaldgf fullkomin snd Litningur 22 Arir ttir: Brn kvenna me sykurski aukinni httu (OR= 2,28) Aukin tni hj brnum hermanna sem brust

Persaflastrinu?? Goldenhar sx. Meinger: Bling svi 1. og 2. kmboga fsturskeii Truflun roska neural crest fruma

30.-45. degi fsturroska Goldenhar sx. Einkenni: VOMENS (+)

Vertebral Orbit Mandible, Maxilla, Malar og temporal bein Ear N.facialis

Soft tissue changes: Einkenni VOMENS (+) Vertebral; complete ea partial samvxtur tveimur ea fleiri verte- ea hemivertebrae Einkenni VOMENS (+)

Orbit: augnvdd (micropthalmia) epibulbar fyrirferir latt augnlok (ptosis) sjnskering Epibulbar Dermoid

Einkenni VOMENS (+) Mandible, Maxilla, Malar og temporal bein: dysplasia hypoplasia

Einkenni VOMENS (+) Ear: preauricular tags anomalia beinum mieyra aflgun pinna og tragus

heyrnarskering Goldenhar sx. VOMENS (+) N.facialis: skemmd breytt lega Goldenhar sx.

VOMENS (+) Soft tissue changes: klofinn gmur vvalmun vvarrnun Goldenhar sx Einkenni: (+) Breytt spectrum annarra anomalia:

Mtk-gallar (roskaskering), heilataugar (V, VII, VIII) Hjartagallar (oftast septum og tflisstrktrar, tetraology of Fallot) Gallar beinagrind (brjstgrind, tlimir) Gallar lungum og lugnablrs Gallar meltingarvegi Nrnagallar (hypoplastskt, ectopic, unirenal) Gallar nmiskerfi

Rannsknir Snarskoun Panorex (mynd) Sjn- og heyrnarmling Cephalogram (rtg. hfu) TS (+ 3D) MRI

Arar rannsknir m.t.t. einkenna Greining Stigun Eyru Meurmann flokkun Grade I; lti og aflaga Grade II; rngur ea lokaur eyrnagangur,

aflaga Grade III; leifar af eyra, gangur lokaur Anotia; eyra ekki til staar Greining - stigun Kjlkabein Pruzansky stigun

Type I; vg hypoplasia ramus Type II; lti condylar hfu og hypoplastskur ramus Type III; ramus einungis unn himna ea ekki til staar

Mefer Skurager Viger fngum H stigun (Meurmann og Pruzansky) Yfirleitt ekki framkvmdar slandi fyrr en >6 ra nema alvarleg einkenni su

til staar Mefer Fyrir vs Eftir Takk fyrir

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