Reports from National Research Centre Advance Knowledge in Medical Genetics (Emanuel syndrome due to unusual pattern).

A recent study conducted by the National Research Centre explores the atypical features of Emanuel syndrome, a rare chromosomal disorder. The study describes a patient with Emanuel syndrome who exhibited unusual characteristics, such as the lack of a prominent forehead and epicanthic folds. The patient also had brain abnormalities, hearing loss, and facial dysmorphism. The research suggests that alternative genetic mechanisms may be involved in patients with multiple congenital anomalies and facial dysmorphism. For more information, the full article can be accessed through the Egyptian Journal of Medical Human Genetics. [Extracted from the article]