Misdiagnosed metabolic bone abnormality: a case report.

Background: Metabolic bone disease causes significant morbidity and mortality, especially when misdiagnosed. With genetic testing, multiple disease pathologies can be analyzed.

Case Presentation: A 5-year and 9-month-old otherwise healthy Yemeni girl presented to her Yemen physician for evaluation of inward bending of her right knee and short stature.

Clinical and Laboratory Features of PCR-Confirmed and Clinically Suspected COVID-19 Pediatric Patients: A Single Hospital-Based Experience During the First COVID-19 Wave in the United Arab Emirates.

Objective: This study investigated clinical and laboratory differences between confirmed (RT-PCR-positive) and clinically suspected (RT-PCR-negative) COVID-19 pediatric patients, and explored factors associated with disease severity at presentation and duration of hospitalization.

Methods: Medical charts of COVID-19-confirmed and clinically suspected pediatric patients admitted to a tertiary hospital in Abu Dhabi were reviewed. Sociodemographic information and clinical and laboratory outcomes were retrieved and analyzed.

Copy Number Variations in Genetic Diagnosis of Congenital Adrenal Hyperplasia Children.

Congenital adrenal hyperplasia (CAH) is a monogenic disorder caused by genetic diversity in the gene, with 21-hydroxylase deficiency (21-OHD) as the most common type. Early sex assignment and early diagnosis of different genetic variations with a proper technique are important to reduce mortality and morbidity. Proper early sex identification reduces emotional, social, and psychological stress.