This article reports the case of a Brazilian child diagnosed with Kabuki make-up syndrome (KMS), addressing the clinical features observed, with emphasis on the disease-specific oral and craniofacial manifestations. The patient had the distinctive KMS craniofacial appearance, mild delayed mental development, fingers with prominent fingertip pads and visual deficit. The dental findings included fusion of the left mandibular incisors (central and lateral), gemination of the right mandibular central incisor and congenital agenesis of the right mandibular lateral incisor, in the primary dentition, as well as absence of both permanent mandibular lateral incisors. Fusion and gemination have not been previously referred to as typical dental features in KMS. The detection of unique dental findings, such as missing teeth and dental anomalies of form in the primary dentition by means of clinical and radiographic examinations, might consist of a helpful diagnosis parameter in identifying children who may have milder forms of Kabuki syndrome.
Trisomy 18 is a disorder characterized by psychomotor disabilities, dysmorphic features and organ malformations, including mental disabilities, growth deficiency, poor motor ability, micrognathia, microcephaly, low-set and malformed ears, distinctively clenched fists with overlapping fingers, and congenital heart defects. The prognosis is poor: 90% of infants with trisomy 18 do not survive beyond the first year of life and 99% die before the age of 10. This paper reports on a 13-year-old child diagnosed with trisomy 18. The major clinical features are cleft lip/palate, high-arched narrow palate, micrognathia, anterior open bite, posterior crossbite and taurodontism. Dental care management of these patients with special needs is discussed and the dental treatment for this child with trisomy 18 is described.
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