Browsing by Author "Bezuidenhout, Heidre"

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    Charge syndrome : genetic aspects and dental challenges, a review and case presentation
    (BMC (part of Springer Nature), 2020-05-08) Chetty, Manogari; Roberts, Tina Sharon; Elmubarak, Mona; Bezuidenhout, Heidre; Smit, Liani; Urban, Mike
    Background: CHARGE syndrome (CS) is a rare genetic condition (OMIM #214800). The condition has a variable phenotypic expression. Historically, the diagnosis of CHARGE syndrome was based on the presence of specific clinical criteria. The genetic aetiology of CS has since been elucidated and attributed to pathogenic variation in the CHD7 gene (OMIM 608892) at chromosome locus 8q12. Case presentation: A South African female of mixed ancestry heritage, aged 4 years, was referred for dental assessment to the Faculty of Dentistry, University of the Western Cape, in 2018. She had a diagnosis of CHARGE syndrome confirmed by a Medical Geneticist from the Division of Molecular Biology and Human Genetics at the University of Stellenbosch. The patient had a long prior history of health and developmental problems, with the correct diagnosis becoming apparent over time. She presented with many oral and craniofacial features warranting consideration by the dentist including micrognathia, hypoplastic nasal bones, cranial nerve dysfunction, bruxism, craniofacial anomalies and compromised sensory perception. The treatment was mainly preventive and, although she fed through a percutaneous endoscopic gastrostomy tube (PEG), maintenance of her oral hygiene was necessitated. Conclusion: CS is a multisystem condition and the optimal care for an individual is with a specialist multidisciplinary team. The numerous systemic problems affecting these individuals take precedence in their care, and often there is neglect of their dental concerns. Given the abnormalities frequently present in the oral and craniofacial region, the authors recommend that a team of dental and other medical specialists be involved in the management of individuals with CS.
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    CHARGE syndrome : genetic aspects and dental challenges, a review and case presentation
    (BMC, 2020-05) Chetty, Manogari; Roberts, Tina Sharon; Elmubarak, Mona; Bezuidenhout, Heidre; Smit, Liani; Urban, Mike
    Background: CHARGE syndrome (CS) is a rare genetic condition (OMIM #214800). The condition has a variable phenotypic expression. Historically, the diagnosis of CHARGE syndrome was based on the presence of specific clinical criteria. The genetic aetiology of CS has since been elucidated and attributed to pathogenic variation in the CHD7 gene (OMIM 608892) at chromosome locus 8q12. Case presentation: A South African female of mixed ancestry heritage, aged 4 years, was referred for dental assessment to the Faculty of Dentistry, University of the Western Cape, in 2018. She had a diagnosis of CHARGE syndrome confirmed by a Medical Geneticist from the Division of Molecular Biology and Human Genetics at the University of Stellenbosch. The patient had a long prior history of health and developmental problems, with the correct diagnosis becoming apparent over time. She presented with many oral and craniofacial features warranting consideration by the dentist including micrognathia, hypoplastic nasal bones, cranial nerve dysfunction, bruxism, craniofacial anomalies and compromised sensory perception. The treatment was mainly preventive and, although she fed through a percutaneous endoscopic gastrostomy tube (PEG), maintenance of her oral hygiene was necessitated. Conclusion: CS is a multisystem condition and the optimal care for an individual is with a specialist multidisciplinary team. The numerous systemic problems affecting these individuals take precedence in their care, and often there is neglect of their dental concerns. Given the abnormalities frequently present in the oral and craniofacial region, the authors recommend that a team of dental and other medical specialists be involved in the management of individuals with CS.
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    Malignant peripheral nerve sheath tumours and neurofibromatosis 1 : a case series and recommendations for care
    (AOSIS, 2018-08-20) Burger, Henriette; Bezuidenhout, Heidre; Sher-Locketz, Candice; Baatjes, Karin; Van Wyk, Jacques; Bonthuys, Anita
    Background: The incidence of malignant peripheral nerve sheath tumours (MPNST) in patients with neurofibromatosis 1 (NF1) is significantly higher than that of the general population. NF1-associated MPNST occur at a younger age and carry a worse prognosis than sporadic MPNST. Aim: This case series describes four cases of MPNST in patients with NF1. Setting: The study was performed in a public academic hospital in the Western Cape province of South Africa. Method: Demographics, disease status, histopathology, treatment and outcome data were collected retrospectively from medical charts and through review of histological slides. Results: The median age was 36.5 years. All tumours were > 5 cm at presentation and located on the trunk. One patient presented with metastatic disease. There was a mean delay of 3.5 months from presentation to initiation of treatment. Three patients underwent wide excision, with one receiving adjuvant chemotherapy and radiotherapy. At a median follow-up of 20 months from histological diagnosis only one patient was alive in clinical remission. Two patients had succumbed to progressive disease at 8 and 16 months from diagnosis and one patient with terminal metastatic disease was lost to follow-up. Conclusion: In this series the patients presented with advanced, often unresectable lesions for which single modality therapy was not curative. An adult NF1 health surveillance guideline for resource-constrained environments could lead to early diagnosis and treatment of MPNST and other complications in NF1 patients.
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    Prenatal diagnosis and outcomes of congenital Lower Urinary Tract Obstruction (LUTO) at Tygerberg Hospital Fetal Medicine Unit: an audit of 12 years
    (Stellenbosch : Stellenbosch University, 2015-12) Bezuidenhout, Heidre; Urban, M.; Geerts, L.; Stellenbosch University. Faculty of Medicine and Health Sciences. Dept. of Obstetrics and Gynaecology.
    ENGLISH ABSTRACT: Objective: To determine the frequency, etiology, survival and associated morbidity of prenatally detected Lower Urinary Tract Obstruction (LUTO) to predict outcome and guide prenatal counselling and management. Methods: Retrospective record review of prenatal LUTO cases at the Tygerberg Hospital Fetal Medicine Unit between January 2003 and June 2014. Results: A total of 75 prenatal LUTO cases were detected in 12 years, giving an approximate frequency of 1.2 per 10,000 births calculated over a 3 year period. The median gestation at diagnosis was 22.4 weeks. Prenatally 39 (52%) were classified as ‘Isolated’, 16 (21%) as ‘Isolated with marker’ and 20 (27%) as ‘Complex’. Gender difference observed with predominance of males (60/68) (88%), male:female ratio 7.5:1. Males had predominantly ‘Isolated LUTO’ (n=36, 60%), and females ‘Complex LUTO’ (n=5, 63%). Survival outcomes included: TOP 26 (35%), IUD 1 (1%), Stillbirths 8 (11%), NND 12 (16%), Infant deaths 4 (5%), alive >1 year 16 (21%), Lost to follow-up/Unknown 8 (11%). The most common etiology was PUV (51%). Chromosomal aneuploidy was found in 9.3% (7/75), all in males, with Trisomy 21 the most common anomaly (4/7) (57%). Prenatal findings shown to be significantly associated with a ‘Poor outcome’ are bilateral renal cortex echogenic/cystic changes (p=0.029), anhydramnios (p=0.011) and pulmonary hypoplasia (p=0.003). Morbidity measures showed survivors beyond 1 year of age (n=16) had renal impairment (n=6, 37%), bladder dysfunction (n=4, 25%), recurrent UTI’’s (n=9, 56%). Conclusion: This study adds novel data on the burden and impact of congenital LUTO in a South African, developing country setting. It confirms high mortality and significant morbidity, and supports the predictive value of specific antenatal ultrasound findings. Recommendations for clinical practice include; systematic ultrasound examination for other major anomalies, including soft markers to better define the risk of underlying chromosomal anomalies, determination of gender and karyotyping. The overall poor prognosis makes extensive counselling of the parents essential, especially if detected late in pregnancy, and supports the development of standardised guidelines for congenital anomalies.
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    Replication of high fetal alcohol spectrum disorders prevalence rates, child characteristics, and maternal risk factors in a second sample of rural communities in South Africa
    (MDPI, 2017) May, Philip A.; De Vries, Marlene M.; Marais, Anna-Susan; Kalberg, Wendy O.; Buckley, David; Adnams, Colleen M.; Hasken, Julie M.; Tabachnick, Barbara; Robinson, Luther K.; Manning, Melanie A.; Bezuidenhout, Heidre; Adam, Margaret P.; Jones, Kenneth L.; Seedat, Soraya; Parry, Charles D. H.; Hoyme, H. Eugene
    Background: Prevalence and characteristics of fetal alcohol syndrome (FAS) and total fetal alcohol spectrum disorders (FASD) were studied in a second sample of three South African rural communities to assess change. Methods: Active case ascertainment focused on children with height, weight and/or head circumference ≤25th centile and randomly-selected children. Final diagnoses were based on dysmorphology, neurobehavioral scores, and maternal risk interviews. Results: Cardinal facial features, head circumference, and total dysmorphology scores differentiated specific FASD diagnostic categories in a somewhat linear fashion but all FASD traits were significantly worse than those of randomly-selected controls. Neurodevelopmental delays were significantly worse for children with FASD than controls. Binge alcohol use was clearly documented as the proximal maternal risk factor for FASD, and significant distal risk factors were: low body mass, education, and income; high gravidity, parity, and age at birth of the index child. FAS rates continue to extremely high in these communities at 89–129 per 1000 children. Total FASD affect 196–276 per 1000 or 20–28% of the children in these communities. Conclusions: Very high rates of FASD persist in these general populations where regular, heavy drinking, often in a binge fashion, co-occurs with low socioeconomic conditions.