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Tag: anomaly
Lancaster Disease (must read, learn in 5 minutes)
Treacher-Collins syndrome is also known as Lancaster disease or Franceschetti-Zwahlen-Klein syndrome. It is a rare genetic disorder manifested by the head\’s bony and soft tissue deformities, especially ears, orbit, facial bones, and chin. History Dr. Treacher Collins, an Ophthalmologist, first mentioned this entity in a paper presented to the Opthalmology Society, UK in 1933. Genetic…
Ebstein anomaly – epidemiology, signs, symptoms, treatment
1. 🔍 Definition & Pathophysiology Ebstein anomaly is a rare congenital cardiac defect characterized by downward (apical) displacement of the septal and posterior leaflets of the tricuspid valve into the right ventricle, resulting in “atrialization” of a portion of the RV and dilatation of the right atrium. Leaflets may be tethered or fenestrated, with an…
Down Syndrome: An Evidence-Based Overview for Medical Professionals
Definition Down syndrome (DS), also known as Trisomy 21, is a genetic disorder caused by the presence of a full or partial extra copy of chromosome 21. This chromosomal abnormality disrupts typical development and results in a spectrum of cognitive, physical, and medical challenges. Three cytogenetic types are recognized: Epidemiology Clinical Features Craniofacial and Musculoskeletal:…