Publications by authors named "K Fieggen"
Article Synopsis
- Lack of comprehensive data on congenital disorders (CDs) in South Africa affects resource distribution and detection of risks from harmful pregnancy exposures.
- A study using the Western Cape Pregnancy Exposure Registry analyzed data from 2016 to 2022, finding a confirmed prevalence of major CDs at 7.2 per 1,000 births, which increased to 9.2 when including missed diagnoses.
- Factors such as older maternal age and diabetes raised CD prevalence, while HIV status and other conditions did not significantly impact rates; improving neonatal checks and records could enhance CD detection.
STAC3 disorder, or Native American myopathy, is characterised by congenital myopathy, hypotonia, musculoskeletal and palatal anomalies, and susceptibility to malignant hyperthermia. A STAC3 c.851 G > C (p.
View Article and Find Full Text PDFPycnodysostosis is a skeletal dysplasia characterized by short stature, generalized osteosclerosis, acro-osteolysis, and recognizable facial features. Oral manifestations are commonly described and include a high-arched palate with dental crowding and malocclusion, hypoplastic enamel, and retained deciduous teeth with impacted permanent teeth, and there is an increased risk of developing osteomyelitis of the jaw. We report here the history of a 9-year-old male with the typical facial and skeletal phenotype of pycnodysostosis but novel oral features.
View Article and Find Full Text PDFObjectives: This study aimed to explore the decision-making process of patients with pregnancies affected by serious congenital abnormalities.
Methods: The study design was an exploratory qualitative study. The sample for this study was pregnant individuals who had a prenatal diagnosis of a serious congenital abnormality and were offered termination of pregnancy.