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ELLIS-VAN CREVELD SENDROMU: BİR OLGU BİLDİRİMİ

ELLIS-VAN CREVELD SYNDROME: CASE REPORT

Journal Name:

  • İstanbul Üniversitesi Diş Hekimliği Fakültesi Dergisi

Publication Year:

  • 2007

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Ellis-van Creveld syndrome , or chondroectodermal dysplasia, is an autosomal recessive disorder with characteristic clinical manifestations. The syndrome seems as a result of the mutation at the 16 th band of the long arm of 4th chromosome. Its incidence in the general population is 7/1.000.000. Chondroectodermal Dysplasia is a disease complex consisting of bilateral manual Polydactyly, chondrodysplasia of long bones resulting in acromclic dwarfism, hydrotic ectodermal dysplasia affecting principally the nails, teeth and hair and congenital heart malformations. The presence of a great variety of oral manifestations such as fusion of the upper lip to the gingival margin, presence of multiple frenula, abnormally shaped and microdontic teeth, and congcnitally missing teeth requires mullidisciplinary dental treatment, with consideration for the high incidence of cardiac defects in these patients. In this article, a case of a 9 year old child with chondroectodermal dysplasia is presented. After the physical, radyologic, intra-oral and extra-oral investigations; bilateral manual Polydactyly, acromelic dwarfism. distrofic nails, abnormally shaped and microdontic teeth, congcnitally missing teeth is identified. As the intra-oral treatments are done for the patient; it is considered that she needs a longer follow up.
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Abstract (Original Language): 
Kondroektodermal displazi olarak da bilinen Ellis-van Creveld (EvC) Sendromu genetik bir anomali olarak kabul edilmekte ve »örülme sıklığının 7/1.000.000 olduğu bildirilmektedir. 4. kromozomun p kolunun 16. bandındaki mulasyon sonucu ortaya çıktığı belirtilen Ellis-van Creveld ( Kondroektodermal Displa/.i) Sendromu görülen olgularda; cücelik, orantısız ekstremiteler, polidaktili, bilek kemiklerinde mal formasyon, el tırnaklarında distrofı, kardiak mal formasyonlar, üst dudak kısalığı, neonatal dişler, oligodonti, küçük ve anormal formda dişler, sürme gecikmesi ve hipertrofik frenulum saptanabileceği belirtilmektedir. 9 yaşında Ellis-van Creveld Sendrom'lu bir kız çocuğunun yapılan fiziksel, radyolojik, ağız içi ve ağız dışı muayenesi sonucunda; cücelik, orantısız ekstremiteler. polidaktili, el tırnaklarında distrofi, oligodonti, küçük boyutta dişler, diş sürmesinde gecikme, hipertrofik frenulum bulgularına rastlanmıştır. Ağız içi tedavileri yapılan olgunun uzun süreli takibine karar verilmiştir.
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REFERENCES

References: 

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