A Nine-Year-Old Girl With Cornelia de Lange Syndrome: A Case Report and Review of the Literature.

Cornelia de Lange syndrome is a genetic disorder that affects multiple systems. It is characterized by growth delays and psychomotor retardation associated with various anomalies, including hirsutism, facial dysmorphism, cardiac abnormalities, upper-extremity malformations, and gastrointestinal disorders. Early detection and appropriate management of associated disorders are essential for achieving favorable outcomes.

Rheumatoid Purpura in Children: A Retrospective Study.

Introduction Rheumatoid purpura, also referred to as Schönlein-Henoch disease, is a form of systemic vasculitis that is characterized by the presence of IgA deposits within the walls of small vessels. The primary symptoms include skin purpura, arthralgia, abdominal discomfort, and urinary tract abnormalities. While often benign, the disease can result in severe complications, particularly those affecting the digestive and renal systems, which require urgent medical attention.

Pycnodysostosis: Clinical Insights From Two Siblings.

Pycnodysostosis is a rare autosomal recessive bone disorder caused by mutations in the cathepsin K (CTSK) gene, characterized by increased bone density, short stature, and skeletal fragility. This study reports on two siblings from a consanguineous marriage, observed at the Mohammed VI University Hospital in Oujda, Morocco. Both patients presented with typical symptoms, including craniofacial dysmorphism and skeletal abnormalities.