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.

Psychometric Properties of the Wechsler Intelligence Scale, WISC-IV for Deaf Intelligence with Wardenburg Syndrome and Level of Intelligence for Different Mental States

“…-Most individuals have normal psychological development while the remaining (13%) have a growth delay. Marta et al (2016) conducted a study aimed at identifying the characteristics of this syndrome as a genetic disorder, and its prevalence is estimated at (1: 42000). Clinical features of Wardenburg syndrome include lateral displacement of the inner eyebrow, enlargement of the eyebrows, a prominent and wide nasal bridge, and congenital deafness, pigmentation of the iris and skin, and white hair on the head.…”

Genetic basis of hearing loss in Spanish, Hispanic and Latino populations

“…Waardenburg syndrome (WS) is characterized by heterochromia, white forelock, and moderate to profound HL (Marta et al 2016). There are four subtypes of WS with HL most frequently associated with WS type I and II (Ma et al 2016; Shi et al 2016; Solia-Nasser et al 2016; Wang et al 2010; Wildhardt et al 2013; Yang et al 2013).…”