Resumo

CHETTY, M; ROBERTS, T; STEPHEN, LXG  e  BEIGHTON, P.. Osteogenesis Imperfecta type III:A report on the unusual phenotypic features of six individuals of Cape mixed ancestry heritage. S. Afr. dent. j. [online]. 2018, vol.73, n.4, pp.239-242. ISSN 0375-1562.

Osteogenesis imperfecta type III (OMIM 259420) is a severe autosomal recessive disorder in which frequent fractures and progressive limb and spinal deformity result in profound physical disability. The condition is heterogeneous and dentinogenesis imperfecta (Dl) is an important syndromic component of some types of 01 III. Other maxillofacial and dental manifestations also have significant implications in terms of management. The prevalence of Osteogenesis imperfecta type III (OI III) as a category of the inherited connective tissue disorders in South Africa is of paramount importance. Although autosomal recessive (AR) Ol is rare worldwide, it has emerged that the frequency of OI III is relatively high amongst the indigenous Black African population of South Africa. A review of the literature revealed a paucity of information regarding the dental and craniofacial manifestations of the disorder in this ethnic group. For these reasons, the central theme of this report is the identification, documentation and analysis of these features in five individuals with Ol III in SA. In an overall study, a total of 64 Black African affected persons were assessed. In a nested study five persons of Cape Mixed Ancestry (CMA) and three Indian individuals were investigated.¹ The five CMA patients had the phenotypic features of classical Ol III, specifically severe fracturing, stunted stature, white sclerae and moderate to severe Dl. Their general health was reasonably good and longevity was a major factor. One person, the prototypic Ol III patient described in SA, was 61 years of age. Each of these individuals had massive mandibular prognathism with dental and skeletal Class III malocclusions. In South Africa, a developing country, the allocation of resources in terms of specialized dental facilities is limited. Socio-economic barriers also exist, restricting patient access to dental care. The previously neglected dental and craniofacial abnormalities documented in this study emphasizes the importance of a raised level of awareness in terms of dental management and the possible challenges that may be encountered.

Palavras-chave : Craniofacial; Dental; Osteogenesis imperfecta.

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