Zbornik - Društvo genetičara Srbije

V-Pos-4 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE 207
Subotica, 30. novembar - 4. decembar 2004.
TEACHERS COLLINS SYNDROME
KLINIÈKE KARAKTERISTIKE I PREPORUKE DALJEG TRETMANA
Slobodanka Grkoviæ, M. Ješiæ i G. Èuturilo
Univerzitetska deèja klinika, Beograd
Teacher Collins sindrom je retko autosomno dominantno oboljenje. U literaturi, ovaj
sindrom je poznat i kao mandibulofacijalna dozostoza. Priblina uèestalost kod
novoroðene dece je 1/25.000-1/50.000.
Glavne karakteristike klinièke slike ovog sindroma su: hipoplazija srednjeg dela lica,
hipoplastièna mandibula, nerazvijene ušne školjke, progresivni razvoj konduktivne
gluvoæe i rascep nepca. Takoðe prisutne su i sledeæe karakteristike: palpebralni prorezi
antimongoloidno ukošeni, kolobom donjeg kapka, delimièno ili totalno dsustvo donjih
trepavica. Druge anomalije su reðe prisutne.
Klinièke karakteristike Teacher Collins sindroma su obièno bilateralne i simetriène i
postoje znaèajne fenotipske varijacije unutar jedne familije. Oko 60% sluèajeva je
posledica de novo mutacije. TCS gen (TCOF 1) je lokalizovan na hromosomu broj
5 q32-q33.1.
Prikaz sluèaja. Prvo dete iz prve uredne trudnoæe primljeno je radi ispitivanja etiologije
prisutnih kongenitalnih nomalija.
Na prijemu muško novoroðenèe sa fenotipskim karakteristikama Treacher Collins-ovog
sindrom: hipoplazija zigomatiènih kostiju, hipoplazija mandibule, hipoplastiène ušne
školjke sa zatvorenim ušnim kanalima, kao i drugim prisutnim anomalijama koje
odgovaraju fenotipu ovog sindroma.
U daljem praæenju predviðena je moguænost razvoja konjuktivne gluvoæe kao i
eventualne korektivne hirurške intervencije.
TEACHERS COLLINS SYNDROME
CLINICAL CHARACTERISTICS AND GUIDELINES FOR FURTHER
TREATMENT
Treachers Collins Syndrome is a rare autosomal dominant disorder of craniofacial development
with variable expressions. The incidence of this syndrome is about 1/25.000 -
1/50.000 live newborns. Treacher Collin Syndrome is alternatively called mandibulofacial
dysostosis.
The main clinical characteristics of this syndrome include: midface hypoplasia, micrognathia,
microtia, conductive hearing loss and cleft palate. Antimongoloid palpebral fissures,
coloboma of lower eyelids, eyelash malformations, preauricular hair displacements
are also obligatory features. There are other abnormalities, which are infrequent.
The clinical features of this syndrome are usually bilateral and symmetrical, and marked
variation of the phenotype can be observed in family members. About 60% of cases arise
as a result of a de novo mutation. The TCS gene (TCOF 1) is localized on the human
chromosome 5 q32-q33.1.
Case Report. A newborn male baby was admitted to our hospital because of congenital
malformation.
The baby was born from the first uncomplicated pregnancy. Family background was normal.
Clinical findings on admission: The baby had a typical face appearance for Treacher
Collin Syndrome. These face features included: hypoplastic mandible and zygomatic
bones, antimongoloid fissures, hypoplastic auricules and other.
Future studies should be focused on a possibility for the development of conductive hearing
loss and the possibility of surgical treatment.