Browsing by Author "Beighton, P"
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- ItemOpen AccessCANDLE SYNDROME: Orodfacial manifestations and dental implications(BioMed Central, 2015-12-28) Roberts, T; Stephen, L; Scott, C; di Pasquale, T; Naser-eldin, A; Chetty, M; Shaik, S; Lewandowski, L; Beighton, PA South African girl with CANDLE Syndrome is reported with emphasis on the orodental features and dental management. Clinical manifestations included short stature, wasting of the soft tissue of the arms and legs, erythematous skin eruptions and a prominent abdomen due to hepatosplenomegaly. Generalized microdontia, confirmed by tooth measurement and osteopenia of her jaws, confirmed by digitalized radiography, were previously undescribed syndromic components. Intellectual impairment posed problems during dental intervention. The carious dental lesions and poor oral hygiene were treated conservatively under local anaesthetic. Prophylactic antibiotics were administered an hour before all procedures. Due to the nature of her general condition, invasive dental procedures were minimal. Regular follow-ups were scheduled at six monthly intervals. During this period, her overall oral health status had improved markedly. The CANDLE syndrome is a rare condition with grave complications including immunosuppression and diabetes mellitus. As with many genetic disorders, the dental manifestations are often overshadowed by other more conspicuous and complex syndromic features. Recognition of both the clinical and oral changes that occur in the CANDLE syndrome facilitates accurate diagnosis and appropriate dental management of this potentially lethal condition.
- ItemOpen AccessGenetic disorders in the Indian community of South Africa(Health & Medical Publishing Group, 2011) Beighton, P; Winship, W SOBJECTIVES: To determine the range of genetic disorders in the Indian population of South Africa, assess relevant historical and demographic factors, and discuss the implications for medical and genetic care. METHODS: WSW reviewed the archived data pertaining to patients seen in his paediatric practice in Durban during the past 45 years. Likewise, PB reviewed case details of persons encountered since 1972 in Cape Town, at outreach clinics, and in special institutions for the handicapped throughout South Africa. Additional information was accessed through the Cape Genetic Heritage archive. RESULTS: In addition to the common ubiquitous worldwide genetic disorders, several rare heritable conditions are present in the Indian community of South Africa. These disorders are the consequence of the founder effect and reflect the biological heritage of the early immigrants. Demographic factors (notably endogamy) are also relevant in this respect. As a result of these processes, thalassaemia is by far the most common and important genetic disorder in the Indian population in the country. CONCLUSION: Awareness of the presence of specific genetic conditions in the Indian community of South Africa is important in the diagnostic process. In turn, diagnostic precision facilitates accurate prognostication and optimal medical and genetic management.
- ItemOpen AccessMarfan syndrome in South Africa – a molecular genetic approach to diagnosis(2007) Child, A; Comeglio, P; Arno, G; Beighton, PMarfan syndrome (MFS) (MIM 154700) is a heritable disorder of connective tissue characterised by excessive height and limb length disproportion, together with ocular, cardiovascular and skeletal manifestations. The condition is an autosomal dominant trait, and can be transmitted from generation to generation with variable severity. The determinant gene FBN1 is situated at the chromosomal locus 15q21.1 and codes for the protein fibrillin-1.
- ItemOpen AccessRubinstein-Taybi syndrome:dental manifestations and management(Health and Medical Publishing Group, 2014) Roberts, T S; Chetty, M; Stephen, L; Urban, M; Fieggen, K; Beighton, PRubinstein-Taybi syndrome (RSTS) is an uncommon genetic disorder characterised by a typical facies, small stature, broad angulated thumbs and intellectual impairment. Dental changes are a minor, yet significant component of the condition. Craniofacial growth retardation in RSTS is frequently complicated by unerupted teeth, while dental caries is related to the inherent intellectual deficit. Dental problems necessitate interdisciplinary management in terms of oral surgery, conservative dentistry, periodontics and orthodontics. When affected individuals are unco-operative, certain dental procedures may warrant general anaesthesia. In these instances, dental and medical staff will combine their expertise to enhance the well-being of the patient. In addition, specific dental changes may alert the medical practitioner to the possible diagnosis of RSTS. In this article we document the oro-dental manifestations and review the oro-dental approach in the management of three patients with RSTS. Our experience in South Africa may be relevant to other countries at a similar stage of development.