CASE REPORT JDC Journal of Dentistry for Children-74:3, 2007 Diniz et al 231 Fraser Syndrome ABSTRACT 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 cryp- tophthalmos, 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. (J Dent Child 2007;74:231-5) KEYWORDS: FRASER SYNDROME, ORAL FINDINGS, TOOTH ANOMALIES Clinical Manifestations and Oral Findings in Fraser Syndrome Michele Baffi Diniz, DDS, MSc Luciana Monti Lima, DDS, MSc Nancy Tomoko Sacono, DDS, MSc Andréia Bolzan de Paula, DDS, MSc Lourdes dos Santos-Pinto, DDS, MSc, PhD Drs. Diniz, Lima, and Sacono are graduate students, and Dr. Santos-Pinto is associate professor, all in the Department of Pediatric Dentistry, School of Dentistry of Araraquara, São Paulo State University (UNESP), Araraquara, São Paulo, Brazil; Dr. Paula is graduate student, Department of Dental Materials, School of Dentistry of Piracicaba, State University of Campinas (UNICAMP). Piracicaba, São Paulo, Brazil. Correspond with Dr. Santos-Pinto at lspinto@foar.unesp.br ary characteristic or, alternatively, 1 primary and at least 4 secondary characteristics. 1 Two new genes, Fras1 and Frem2, have been recently identified as causing Fraser syndrome in humans. Fras1, Frem2, Grip1, and Qbrick/Fren1, respectively, have been identified as the mutative genes in bl (blebbed), my (myelen- cephalic blebs), eb (eye blebs), and heb (head blebs) of rats. 4-9 Cryptophthalmos is encountered in 85% of Fraser syndrome patients. In 72% of these cases, there is bilateral involvement. 1 Cryptophthalmos was first noted by Pliny the Elder in the first century A.D., who described a family of 3 children born with a membrane over the eye. In more modern times, the first report of cryptophthalmos with ad- ditional malformations was attributed to Zehender. 11 Oral manifestations associated with this syndrome are ankyloglossia 10,12-14 , tooth crowding 13 , fusion of primary teeth 15,16 , malocclusion 13,17 , hypoplastic teeth 13,17 , ogival palate 2 , and cleft lip/palate. 2,18 A previous clinical paper 19 reported other manifestations associated with Fraser syndrome, including: delayed dental development; over- retention of primary teeth; agenesis of second premolars; F raser syndrome is a rare genetic disorder with a reces- sive autosomal pattern of inheritance with a reported incidence of consanguinity ranging from 15% 1 to 25%. 2 It was first reported in 1962 by George Fraser, 3 who identified 2 siblings bearing cryptophthalmos associated with multiple anomalies. The primary manifestations of Fraser syndrome are: cryptophthalmos (congenital partial or total absence of the eyelids), hand and foot syndactyly, and genital anomalies. Secondary manifestations may also occur, specifically: (1) congenital nose; (2) ear; (3) larynx malformations; (4) cleft lip/palate; (5) skeletal defects; (6) umbilical hernia; (7) renal agenesis; and (8) mental retardation. 1,2,10 The diagnosis is based on the presence of at least 2 primary and 1 second-