Buradasınız

ORO-FASİO-DİJİTAL SENDROM I

ORO-FACIO-DIGITAL SYNDROME I

Journal Name:

Publication Year:

Keywords (Original Language):

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.
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.

REFERENCES

References: 

1. Toriello, H. V. Oral-facial-digital
syndromes. Clin. Dysmorph 1992; 2: 95-
105.
2. Papillon-Léage (Mme), Psaume J. Une
malformation hereditaire de la maqueuse
buccale: brides et freins anormaux. Rev
Stomatol 1954;55: 209-27.
3. Jones KL. Oral-facial-digital Syndrome.
Jones KL. Smith’s Recognizable Patterns of
Human Malformation. 6st ed. Philadelphia:
Elsevier Saunders 2006; 292-7.
4. Usefian E, Khozeime F. A case of the
rare orofaciodigital syndrome type 1. J
Research Med Sci 2005;10(4):231-5.
5. Gabrielli O, Ficcadenti A, Fabrizzi G, Perri
P, Mercuri A, Coppa GV, Giorgi P. Child
with oral, facial, digital, and skeletal
anomalies and psychomotor delay: a new
OFDS form? Am J Med Genet 1994;53(3):
290-3
6. Gluszkiewicz E, Jezela-Stanek A, Marszal
E, Jamroz E. Orofaciodigital syndrome
type 1: clinical characteristics of 2 cases
and its diagnostics overlap with other
malformation syndromes. Case Rep Clin
Pract Rev 2006;7:39-43.
7. Thauvin-Robinet C, Cossee M, CormierDaire V, Maldergem LV, Toutain A, Alembik
Y, et al. Clinical, molecular, and genotypephenotype correlation studies from 25
cases of oral-facial-digital syndrome type
1: A French and Belgian collaborative
study. J Med Genet 2006; 43: 54-61.
8. Mihci E, Tacoy S, Ozbilim G, Franco B.
Oral-Facial Digital Syndrome Type 1.
Indian Pediatr 2007;44(11):854-6.
9. Feather SA, Woolf AS, Donnai D,
Malcolm S, Winter RM. The oral-facialdigitalsyndrome type 1 (OFD1), a cause of
polycystic kidney disease and associated
malformation, maps to Xp22.2-Xp22.3.
Hum Mol Genet 1997;6:1163-7.
10. Habib K, Fraitag S, Couly G, de Prost Y.
Cutaneous lesions in the orofaciodigital
syndrome. Ann Pediatr 1992;39(7):449-
52.
11. Del C Boente M, Primc N, Veliche H,
Rosales S, Carrero-Valenzuela R, Saleme
C, Asial R. A mosaic pattern of alopecia
in the oral-facial-digital syndrome type
I (Papillon-Leage and psaume syndrome).
Pediatr Dermatol 1999;16:367–70.
12. Holub M, Potocki L, Bodamer OA. Central
nervous system malformations in oralfacial-digitalsyndrome, type 1. Am J Med
Genet 2005;136:218-20.
13. Leao MJ, Ribeiro-Silva ML. Orofaciodigital
syndrome type I in a patient with severe
CNS defects. Pediatr Neurol 1995;13(3):
247-51.
14. Feather SA, Winyard PJD, Dodd S et
al. Oral-facial-digital syndrome type 1
is another dominant polycystic kidney
disease: clinical, radiological and
histopathological features of a new
kindred. Nephrol Dial Transplant 1997;12:
1354–61.

Thank you for copying data from http://www.arastirmax.com