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ORO-FASİO-DİJİTAL SENDROM I

ORO-FACIO-DIGITAL SYNDROME I

Journal Name:

  • Selçuk Tıp Dergisi

Publication Year:

  • 2009

Key Words:

Keywords (Original Language):

Author NameUniversity of Author
Abstract (2. Language): 
Oro-facio-digital syndrome, a group of congenital anomalies, is characterized by malformations of the oral cavity (cleft palate and tongue, abnormal dentition, high arched palate, tongue lobulation, hamartomata on the tongue), face (frontal bossing, facial asymmetry, hypertelorism, facial milia), and digits (syndactyly, brachydactyly, clinodactyly, polydactyly. This syndrome has nine different types. Oro-facio-digital syndrome type I (OFDS1) is the most common type, which identified by French dentists Papillon Leage and Psaume Jean, in 1954. OFDS 1 is an X-linked dominant condition that is lethal for males. OFDS 1 is a rare syndrome, occurring in approximately 1/250,000 live births. Approximately 75% of cases are sporadic. There is no specific therapy for OFDS 1 other than surgical correction of the dysmorphic features. Being a rare entity, this paper presents a case of OFDS 1 in a newborn.
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Abstract (Original Language): 
Oro-fasio-dijital sendrom ağız boşluğu (yarık damak ve dil, anormal diş gelişimi, yüksek damak, dilde lobulasyon, dilde hamartom), yüz (frontal çıkıklık, fasiyal asimetri, hipertelorizm, fasiyal milia) ve parmak anomalileri (sindaktili, brakidaktili, klinodaktili, polidaktili) ile ortaya çıkan gelişimsel bir bozukluk olup 9 farklı tipi tanımlanmıştır. Oro-fasio-dijital sendrom I (OFDS 1) en sık görülen tip olup ilk olarak Fransız diş hekimleri Papillon Leage ve Psaume Jean tarafından 1954 yılında tanımlanmıştır. OFDS 1 X’e bağlı dominant geçer ve erkekler için ölümcüldür. OFDS 1 nadir bir sendromdur yaklaşık 1/250.000 canlı doğumda görülmektedir. Olguların yaklaşık %75’i sporadiktir. OFDS’nun dismorfik özelliklerin cerrahi düzeltimi dışında spesifik bir tedavisi yoktur. Nadir görülmesi nedeniyle sunulmuştur.
FULL TEXT (PDF): 
PDF icon arastirmax-oro-fasio-dijital-sendrom-i.pdf
  • 4
211-214
  • Turkish

REFERENCES

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