Artículos de revistas
Clinical Manifestations And Oral Findings In Fraser Syndrome
Registro en:
Journal Of Dentistry For Children. , v. 74, n. 3, p. 231 - 235, 2007.
15518949
2-s2.0-47949113498
Autor
Diniz M.B.
Lima L.M.
Sacono N.T.
De Paula A.B.
Dos Santos-Pinto L.
Institución
Resumen
This article is the first known case report of Fraser syndrome in the dental literature. Its purpose was to present the clinical manifestations, oral findings, and dental treatment of a 14-year, 10-month-old female patient. Fraser syndrome is a rare recessive autosomal genetic disorder characterized by multisystemic malformation, usually comprising cryptophthalmos, syndactyly, and renal defects. The child presented with: (1) hydrocephaly; (2) face asymmetry; (3) low-inserted ears; (4) flat nose bridge; (5) cryptophthalmos; (6) bilateral absence of eyeballs; (7) hypertelorism; (8) syndactyly on the left fingers and toes; (9) skeletal defects; and (10) lower limb asymmetry. The intraoral examination revealed: (1) complete primary denture; (2) malocclusion; (3) tooth crowding; (4) ogival palate; (5) normal labial frena; (6) absence of lingual frenum (not compromising the tongue movements); (7) parched lips; (8) supragingival calculus adhered to all tooth surfaces; and (9) moderate gingivitis. The dental treatment consisted of periodic monitoring of the patient's oral health status and supragingival scaling associated with topical applications of 0.12% chlorhexidine digluconate gel at 2-week intervals to reduce gingivitis. 74 3 231 235 Thomas, I.T., Frias, J.L., Felix, V., Sanchez de Leon, L., Hernandez, R.A., Jones, M.C., Isolated and syndromic cryptophthalmos (1986) Am J Med Genet, 25, pp. 85-98 Slavotinek, A.M., Tifft, C.J., Fraser syndrome and cryptophthalmos: Review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes (2002) J Med Genet, 39, pp. 623-633 Fraser, G.R., Our genetical "load." A review of some aspects of genetic variation. Ann Hum Genet (1962), 25, pp. 387-415McGregor, L., Makela, V., Darling, S.M., Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein (2003) Nat Genet, 34, pp. 203-208 Vrontou, S., Petrou, P., Meyer, B.I., Fras1 deficiency results in cryptophthalmos, renal agenesis, and blebbed phenotype in mice (2003) Nat Genet, 34, pp. 209-214 Smyth, I., Du, X., Taylor, M.S., Justice, M.J., Beutler, B., Jackson, I.J., The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis (2004) Proc Natl Acad Sci U S A, 101, pp. 13560-13565 Takamiya, K., Kostourou, V., Adams, S., A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1 (2004) Nat Genet, 36, pp. 172-177 Jadeja, S., Smyth, I., Pitera, J.E., Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs (2005) Nat Genet, 37, pp. 520-525 Timmer, J.R., Mak, T.W., Manova, K., Anderson, K.V., Niswander, L., Tissue morphogenesis and vascular stability require the Frem2 protein, product of the mouse myelencephalic blebs gene (2005) Proc Natl Acad Sci U S A, 102, pp. 11746-11750 Gattuso, J., Patton, M.A., Baraitser, M., The clinical spectrum of the Fraser syndrome: Report of three new cases and review (1987) J Med Genet, 24, pp. 549-555 Zehender, W., Ein Missgeburt mit Hautuberwachsenen Augen oder Kryptophthalmus. (1872) Klin Monatsbl Augenheilkd, 10, pp. 225-249 Gupta, S.P., Saxena, R.C., Cryptophthalmos (1962) Br J Ophthalmol, 46, pp. 629-632 Ide, C.H., Wollschlaeger, P.B., Multiple congenital abnormalities associated with cryptophthalmia (1969) Arch Ophthalmol, 81, pp. 638-644 Boyd, P.A., Keeling, J.W., Lindenbaum, R.H., Fraser syndrome (cryptophthalmos- syndactyly syndrome): A review of 11 cases with postmortem findings (1988) Am J Med Genet, 31, pp. 159-168 Bialer, M.G., Wilson, W.G., Syndromic cryptophthalmos (1988) Am J Med Genet, 30 (835-837), p. 839 Bierich, J.R., Christie, M., Heinrich, J.J., Martinez, A.S., New observations on midline defects: Coincidence of anophthalmos microphthalmos and cryptophthalmos with hypothalamic disorders (1991) Eur J Pediatr, 150, pp. 246-249 Karas, D.E., Respler, D.S., Fraser syndrome: A case report and review of the otolaryngologic manifestations (1995) Int J Pediatr Otorhinolaryngol, 31, pp. 85-90 Koenig, R., Spranger, J., Cryptophthalmos-syndactyly syndrome without cryptophthalmos (1986) Clin Genet, 29, pp. 413-416 Kantaputra, P., Eiumtrakul, P., Matin, T., Opastirakul, S., Visrutaratna, P., Mevate, U., Cryptophthalmos, dental and oral abnormalities, and brachymesophalangy of second toes: New syndrome or Fraser syndrome? (2001) Am J Med Genet, 98, pp. 263-268 http://www.who.int/childgrowth/standards/en, The World Health Organization child growth standards. Available at:, Accessed January 3, 2007Logan, W.H.G., Kronfeld, R., Development of the human jaws and surrounding structures from birth to the age of 15 years (1933) J Am Dent Assoc, 20, pp. 379-427 Slavotinek, A., Li, C., Sherr, E.H., Chudley, A.E., Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome (2006) Am J Med Genet, 140 A, pp. 1909-1914 Bergwerk, K., Schorr, N., Rabinowitz, Y.S., Visual function in an 11-year-old with Fraser cryptophthalmos syndrome (2004) Am J Ophthalmol, 137, pp. 591-593 Francois, J., Malformative syndrome with cryptophthalmos (1969) Acta Genet Med Gemellol, 18, pp. 18-50 Dinno, N.D., Edwards, W.C., Weiskopf, B., The cryptophthalmos-syndactyly syndrome. Description, manner of inheritance, and notes on the eye lesions (1974) Clin Pediatr, 13, pp. 219-224 Martinez-Frias, M.L., Bermejo Sanchez, E., Felix, V., Calvo Celada, R., Ayala Garces, A., Hernandez Ramon, F., Fraser syndrome: Frequency in our environment and clinical-epidemiological aspects of a consecutive series of cases (1998) An Esp Pediatr, 48, pp. 634-638 Chattopadhyay, A., Kher, A.S., Udwadia, A.D., Sharma, S.V., Bharucha, B.A., Nicholson, A.D., Fraser syndrome (1993) J Postgrad Med, 39, pp. 228-230 Ford, G.R., Irving, R.M., Jones, N.S., Bailey, C.M., ENT manifestations of Fraser syndrome (1992) J Laryngol Otol, 106, pp. 1-4 Sugar, H.S., The cryptophthalmos-syndactyly syndrome (1968) Am J Ophthalmol, 66, pp. 897-899 Zhang, H.C., Cryptophthalmos: A report on three sibling cases (1986) Br J Ophthalmol, 70, pp. 72-74 Francannet, C., Lefrancois, P., Dechelotte, P., Robert, E., Malpuech, G., Robert, J.M., Fraser syndrome with renal agenesis in two consanguineous Turkish families (1990) Am J Med Genet, 36, pp. 477-479 Mc Kusick, V.A., (1992) Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes, pp. 1305-1306. , 1st ed. Baltimore, Md: Johns Hopkins University Press;