title: Trauma due to Self-aggression in Patient with Waardenburg Syndrome associated with Congenital Anomalies.
abstract: Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting variable penetrance and expressivity, with an estimated prevalence of 1:42,000. Clinical characteristics of WS include lateral displacement of the internal eye canthus, hyperplasia of the medial portion of the eyebrows, prominent and broad nasal base, congenital deafness, pigmentation of the iris and skin, and white forelock. A 24-year-old male patient, previously diagnosed with WS, was referred to the Special Needs Dental Clinic of Sacred Heart University, Bauru, Brazil. Parents reported that the patient was experiencing self-mutilation, particularly in the oral region. He presented multiple congenital anomalies, including anophthalmia, mental retardation, low-set ears, and leg deformities. Clinical oral examination revealed hypodontia, abnormalities in dental morphology, extensive dental caries, periodontal disease, and fistulae. Extensive scars on the tongue, lips, and hands caused by self-mutilation were also observed. In accordance with his family and neurologist, full-mouth extraction under general anesthesia was performed, especially considering his severe self-aggressive behavior and the necessity to be fed with soft-food diet due to his inability to chew. After the surgical procedure, a significant reduction in the patient's irritability and gain of weight were reported in the follow-ups of 30, 60, and 180 days.
authors.affiliation: PhD, Department of Dentistry, Universidade do Sagrado Coração, São Paulo, Brazil, Phone: +1421077000, e-mail: sara@nadermarta.com.br.
authors.forename: Sara Nader
authors.initials: SN
authors.lastname: Marta
authors.affiliation: Department of Dentistry, Universidade do Sagrado Coração, São Paulo, Brazil.
authors.forename: Roberto Yoshio
authors.initials: RY
authors.lastname: Kawakami
authors.affiliation: Department of Health, Secretaria Municipal da Saude, Bauru São Paulo, Brazil.
authors.forename: Claudia Almeida Prado Piccino
authors.initials: CA
authors.lastname: Sgavioli
authors.affiliation: Department of Dentistry, Universidade do Sagrado Coração, São Paulo, Brazil.
authors.forename: Ana Eliza
authors.initials: AE
authors.lastname: Correa
authors.affiliation: Department of Dentistry, Universidade do Sagrado Coração, São Paulo, Brazil.
authors.forename: Guaniara
authors.initials: G
authors.lastname: D'Árk de Oliveira El Kadre
authors.affiliation: Department of Dentistry, Universidade do Sagrado Coração, São Paulo, Brazil.
authors.forename: Ricardo Sandri
authors.initials: RS
authors.lastname: Carvalho
mesh_terms: D006801:Humans; D008297:Male; D009055:Mouth / Q000293:injuries*; D016728:Self-Injurious Behavior / Q000150:complications*; D014849:Waardenburg Syndrome / Q000150:complications*; D055815:Young Adult
keywords: Autosomal dominant; Genetic disorder; Waardenburg syndrome.