Zbornik - Društvo genetičara Srbije
Zbornik - Društvo genetičara Srbije
Zbornik - Društvo genetičara Srbije
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206 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE V-Pos-3<br />
Subotica, 30. novembar - 4. decembar 2004.<br />
TEACHERS COLLINS SYNDROME<br />
KLINIÈKE KARAKTERISTIKE I PREPORUKE DALJEG TRETMANA<br />
Slobodanka Grkoviæ, M. Ješiæ i G. Èuturilo<br />
Univerzitetska deèja klinika, Beograd<br />
Teacher Collins sindrom je retko autosomno dominantno oboljenje. U literaturi, ovaj<br />
sindrom je poznat i kao mandibulofacijalna dozostoza. Priblina uèestalost kod<br />
novoroðene dece je 1/25.000-1/50.000.<br />
Glavne karakteristike klinièke slike ovog sindroma su: hipoplazija srednjeg dela lica,<br />
hipoplastièna mandibula, nerazvijene ušne školjke, progresivni razvoj konduktivne<br />
gluvoæe i rascep nepca. Takoðe prisutne su i sledeæe karakteristike: palpebralni prorezi<br />
antimongoloidno ukošeni, kolobom donjeg kapka, delimièno ili totalno dsustvo donjih<br />
trepavica. Druge anomalije su reðe prisutne.<br />
Klinièke karakteristike Teacher Collins sindroma su obièno bilateralne i simetriène i<br />
postoje znaèajne fenotipske varijacije unutar jedne familije. Oko 60% sluèajeva je<br />
posledica de novo mutacije. TCS gen (TCOF 1) je lokalizovan na hromosomu broj<br />
5q32-q33.1. Prikaz sluèaja. Prvo dete iz prve uredne trudnoæe primljeno je radi ispitivanja etiologije<br />
prisutnih kongenitalnih nomalija.<br />
Na prijemu muško novoroðenèe sa fenotipskim karakteristikama Treacher Collins-ovog<br />
sindrom: hipoplazija zigomatiènih kostiju, hipoplazija mandibule, hipoplastiène ušne<br />
školjke sa zatvorenim ušnim kanalima, kao i drugim prisutnim anomalijama koje<br />
odgovaraju fenotipu ovog sindroma.<br />
U daljem praæenju predviðena je moguænost razvoja konjuktivne gluvoæe kao i<br />
eventualne korektivne hirurške intervencije.<br />
TEACHERS COLLINS SYNDROME<br />
CLINICAL CHARACTERISTICS AND GUIDELINES FOR FURTHER<br />
TREATMENT<br />
Treachers Collins Syndrome is a rare autosomal dominant disorder of craniofacial development<br />
with variable expressions. The incidence of this syndrome is about 1/25.000 -<br />
1/50.000 live newborns. Treacher Collin Syndrome is alternatively called mandibulofacial<br />
dysostosis.<br />
The main clinical characteristics of this syndrome include: midface hypoplasia, micrognathia,<br />
microtia, conductive hearing loss and cleft palate. Antimongoloid palpebral fissures,<br />
coloboma of lower eyelids, eyelash malformations, preauricular hair displacements<br />
are also obligatory features. There are other abnormalities, which are infrequent.<br />
The clinical features of this syndrome are usually bilateral and symmetrical, and marked<br />
variation of the phenotype can be observed in family members. About 60% of cases arise<br />
as a result of a de novo mutation. The TCS gene (TCOF 1) is localized on the human<br />
chromosome 5q32-q33.1. Case Report. A newborn male baby was admitted to our hospital because of congenital<br />
malformation.<br />
The baby was born from the first uncomplicated pregnancy. Family background was normal.<br />
Clinical findings on admission: The baby had a typical face appearance for Treacher<br />
Collin Syndrome. These face features included: hypoplastic mandible and zygomatic<br />
bones, antimongoloid fissures, hypoplastic auricules and other.<br />
Future studies should be focused on a possibility for the development of conductive hearing<br />
loss and the possibility of surgical treatment.