Related Experiment Video
Updated: Jun 27, 2026

Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
Published on: September 8, 2023
A newborn with Cornelia de Lange syndrome: a case report
Hakan Uzun1, Dursun Ali Senses, Munevver Uluba
1Department of Pediatrics, Duzce University School of Medicine, Duzce, Turkey. hakanuzun@duzce.edu.tr.
Abstract:
Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Early in life, the distinctive craniofacial features in mild de Lange syndrome may be indistinguishable from the severe (classical) phenotype. We present here a case of newborn with CdLs.
