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Treacher Collins Syndrome

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by

Ram Ibrahim

on 23 May 2017

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Transcript of Treacher Collins Syndrome

Blev først beskrevet i 1900
1/50.000 levendefødte
Autosomal dominant TCOF1 mutation
40% Genetisk, 60% Sporadisk
I 57 % af tilfældende drejer det sig om Frameshift mutation.


What are the complications of Treacher Collins Syndrome?
Troubles eating from cleft palate
Breathing problems caused by abnormally small mouth and normal tongue.
Speech problems from cleft palate and mouth condition.
Dry eye syndrome caused by malformed tear ducts and eyelids unable to blink.
Deafness from small or deformed ear canal
Depression caused by social stigma.
Peoples life expectancy are usually unaffected if they are taken care of properly.
What abnormalties does Treacher Collins Syndrome cause?
Cleft palate
Small jawbone
Disproportionally large or small mouth
Small or absent cheek bones
Misshaped and droopy eyes
Absent lower eyelashes
Absent lower eye sockets
Scalp hair growth onto cheeks
Small or absent ears
Deformities of ear canal
Treacher Collins Syndrome
Case
Treacher Collins Syndrom (TCS)

Hvad er behandlingerne og operationerne for Treacher Collins syndrom?
What complications and symptoms arise from Treacher Collins Syndrome?

BAHA høreapparater konduktivt høretab
Rekonstruktion af nedre øjenlåg
Palatioplastik til ganespalte
Operation af mikroti
Rhinoplastik for at forbedre udseendet af næse
Rami Ibrahim
PBB, Rigshospitalet 23.05.17

2 årig dreng med Treacher Collins sydrom
indlagt til palatoplastik :
3/5:Ekstrem bred isoleret ganespalte, som inddrager palatum mole samt 2/3 del af palatum durum. Vomer synlig i feltet.

POSTOP: Anæstesi: Klassisk Treacher-Collins morfologi med svær mandibel hypoplasi. Nu er den meget brede ganespalte lukket og tungen skal nu rummes i et væstentligt minde cavum oris. Dette presser tunge nedad og posteriort hvilket udfordrer opretholdelse af frit "A". Løsning bør være velplaceret nasal airway.

Forblev til observation på ITA i 3 dage med NASAL airway som blev fjernet uden problemer.

8/5- Udskrives
Dannes i 4 uge
Involverer:
Knogler: Mandible, malleus, incus
Muskler: Masseter
Kranienerver: V2 og V3
1. og 2. Branchie bue
Mandibulofacial Dysostose
Mandibulær hypoplasi
Gane spalte
Mikroti
Nedadgående øjenlåg
Makrostomi og Mikrodonti
Stor fenotypisk variation
Fatal
Mild
Meget mild
Full transcript