ASSOCIATED SYNDROMES AND OTHER GENETIC VARIATIONS AT A SOUTH AFRICAN CLEFT LIP AND PALATE CLINIC


Terbutaline-triggered fetal arrhythmia prior to neonatal diagnosis of Wolff-Parkinson-White syndrome: A case report

Introduction: Short-term maternal administration of betamimetics is a common obstetric practice with uses including tocolysis during antenatal corticosteroid administration for fetal lung maturity, intrapartum tachysystole, and prior to external cephalic version.While previous research has demonstrated adverse effects of prolonged use of maternal b

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Case report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome

Congenital adrenal hyperplasia (CAH) and Williams Syndrome (WS; MIM # 194050) are distinct genetic conditions characterized by unique clinical features.21-Hydroxylase deficiency (21-OHD; MIM #201910), the most common form of CAH, arises from mutations in the CYP21A2 gene, resulting in virilization of the external genitalia in affected Lift Motor fe

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