Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I

Cleft Palate-Craniofacial Journal

Volumn 44, Issue 6, 2007, Pages 660-666

  Romero, Martín ^a,d   Franco, Brunella ^b   Sánchez Del Pozo, Jaime ^c   Romance, Ana ^c  

^a UNIVERSIDAD REY JUAN CARLOS   (Spain)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^d NONE   (Spain)

Author keywords

OFD syndrome; Papillon L age syndrome

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CEPHALOMETRY; CLINICAL FEATURE; DENTITION; DISEASE CLASSIFICATION; DYSOSTOSIS; EXON; FEMALE; GENETIC ANALYSIS; HUMAN; MISSENSE MUTATION; MOUTH EXAMINATION; PAPILLON LEAGE SYNDROME; PRIORITY JOURNAL; SCHOOL CHILD; SKELETON MALFORMATION; TOOTH MALFORMATION;

CEPHALOMETRY; CHEEK; CHILD; CLEFT LIP; CLEFT PALATE; DISEASES IN TWINS; FEMALE; HUMANS; LABIAL FRENUM; MUTATION, MISSENSE; OROFACIODIGITAL SYNDROMES; PALATE, SOFT; PROTEINS; TONGUE; TOOTH ABNORMALITIES;

EID: 36448980591     PISSN: 10556656     EISSN: None     Source Type: Journal    
DOI: 10.1597/06-225.1     Document Type: Article

References (38)

1. Annerén G, Arvidson B, Gustavson KH, Jorulf H, Carlsson G. Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations. Clin Genet. 1984;26:178-186.
2. Annerén G, Gustavson KH, Józwiak S, Kjartansson S, Stromberg B. Abnormalities of the cerebellum in oro-facial-digital syndrome II (Mohr Syndrome). Clin Genet. 1990;38:69-73.
3. Antonarakis SE. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat. 1998;11:1-3.
4. Balci S, Güler G, Kale G, Söylemezoglu F, Besim A. Mohr syndrome in two sisters: prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both. Prenat Diagn. 1999;19:827-831.
5. Baraister M. The orodigitofacial (ODF) syndromes. J Med Genet. 1986;23:116-119.
6. Buyse ML. Birth Defects Encyclopedia: The Comprehensive, Systematic, Illustrated Reference Source for the Diagnosis, Delineation, Etiology, Biodynamics, Occurrence, Prevention, and Treatment of Human Anomalies of Clinical Relevance. Dover, MA: Center for Birth Defects Information; Cambridge, MA: Blackwell; 1990.
7. Cotton JB, Gardet R, Ladreyt JP, Guibaud P. Le syndrome de Mohr (syndrome oro-facio-digital type II). A propos d'une observation familiale. Pediatric 1979;34:257-266.
8. Donnai D, Kerzin-Storrar L, Harris R. Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease. J Med Genet. 1987;24:84-87.
9. Driva T, Franklin D, Crawford PJM. Variation in expression of oral-digital syndrome (type I): report of two cases. Int J Pediatr Dent. 2004;14:61-68.
10. Ferrante M, Barra A, Truong JP, Disteche C, Banfi S, Franco B. Characterization of the OFD1/ofd1 genes on the human and mouse sex chromosomes and exclusion of ofdl for the Xpl mouse mutant. Genomics. 2003;81:560-569.
11. Ferrante M, Giorgio G, Feather S, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf A, Sylvie O, LeMarec B, Malcolm S, Winter R, Ballabio A, Franco B. Identification of the gene for oral-facial-digital type I syndrome (OFD1). Am J Hum Genet. 2001;68:569-576.
12. Franceschini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Bolgiani MP. Short rib-dysplasia group (with/without Polydactyly): report of a patient suggesting the existence of a continuous spectrum. Am J Med Genet. 1995;59:359-364.
13. Gillerot Y, Koulischer L. Oro-facial-digital syndrome II. Clin Genet. 1988;33:141-142.
14. Goldstein E, Ledesma J. Mohr syndrome or oral-facial-digital II: report of two cases. JADA. 1974;89:377-382.
15. Gorlin R, Pindborg J, Cohen M. Síndromes de la cabeza y del cuello. Barcelona: Ediciones Toray; 1978.
16. Gunbay S, Zeytinoglu B, Ozkinay F, Ozkinay C, Oncag A. Orofaciodigital syndrome I: a case report. J Clin Pediatr Dent. 1996;20:329-332.
17. Haumont D, Pelce S. The Mohr syndrome: are there two variants? Clin Genet. 1983;24:41-46.
18. Hosalkar HS, Shah H, Gujar P, Kulkarni A, Yagnik MG. Mohr syndrome: a rare case and distinction from orofacial digital syndrome I. J Postgrad Med. 1999;45:123-124.
19. Hsieh Y, Hou J. Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect. Am J Med Genet. 1999;86:278-281.
20. Jones K, Smith S. Recognizable Patterns of Human Malformation. Philadelphia: WB Saunders; 1988.
21. King NM, Sanares A. Oral-facial-digital syndrome type I: a case report. J Clin Pediatr Dent. 2002;26:211-215.
22. Lipp MJ, Lubit EC. The oral-facial-digital syndrome: case report of a mother and daughter. Cleft Palate J. 1990;27:311-316.
23. Lyons DC. Skeletal anomalies associated with cleft palate and harelip. Am J Orthod. 1939;25:895-897.
24. Martinot VL, Manuvrier S, Anastassov Y, Ribiere J, Pellerin PN. Orodigitofacial syndromes type I and II: clinical and surgical studies. Cleft Palate Cran iofac J. 1994;31:401-408.
25. Melnick M, Shields ED. Orofaciodigital syndrome type I: a phenotypic genetic analysis. Oral Surg. 1975;40:599-610.
26. Mohr OL. A hereditary sublethal syndrome in man. Nor Vidensk Akad Oslo I Mat Naturv Klasse. 1941;14:13-18.
27. Papillon-Léage G, Psaume J. Une malformation héré ditaire de la muqueuse buccale brides et freins anormaux. Rev Stomatol. 1954;55:204-227.
28. Prpic I, Cekada S, Franulovic J. Mohr syndrome (oro-facial-digital syndrome II). A familial case with different phenotypic findings. Clin Genet. 1995;48:304-307.
29. Rakkolainen A, Ala-Mello S, Kristo P, Orpana A, Järvelä I. Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome I. J Med Genet. 2002;39:292-296.
30. Reardon W, Harboard MG, Hall-Craggs MA, Kendall B, Brett E, Baraiste M. Central nervous system malformations in Mohr's syndrome. J Med Genet. 1989;26:659-663.
31. Rimoin DL, Edgerton MT. Genetic and clinical heterogeneity in the oral-facial-digital syndromes. J Pediatr. 1967;71:94-102.
32. Ruess AL, Pruzansky S, Liss EF, Patau K. The orofacial digital syndrome: a multiple congenital condition of females with associated chromosomal abnormalities. Pediatrics. 1962;29:198-199.
33. Salinas CF, Shashidhar G, Christian P, Vera L, Milutinovic J, Hagerty R, Cooper JD, Cagna DR. Variability of expression of the orofaciodigital syndrome type I in black females: six cases. Am J Med Genet. 1991;38:574-582.
34. Thauvin-Robinet C, Cossée M, Cormier-Daire V, VanMaldergem L, Toutain A, Alembik Y, Bieth E, Layet V, Parent P, David A, et al. Clinical molecular and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type I: a French and Belgian collaborative study. J Med Genet. 2006;43:54-61.
35. Torriello HV. Oral-facial-digital syndromes. Clin Dysmorphol. 1993;2:95-105.
36. Townes PL, Wood BP, McDonald JV. Further heterogeneity of the oral-facial-digital syndromes. Am J Dis Child. 1976;130:548-554.
37. Tüysüz B, Arapoglu M, Seven M, Genani A. Mohr-Majewski syndrome (orofaciodigital syndrome type IV) in five sibs. Genet Couns. 1999;10:189-192.
38. Wahrman J, Beraut M, Jacobs J, Aviad I, Ben-Hur M. The oral-facial-digital syndrome: a male-lethal condition in a boy with 47/xxy chromosomes. Pediatrics. 1966;37:812-821.