Brachydactyly, anonychia and a deformed nasal tip in a 16-year-old girl: A case report

The current report describes a case of a 16-year-old girl with a rare combination of nasal dysmorphology, anonychia and brachydactyly of hands and feet. The combination of hand and nasal malformations suggested a type B brachydactyly. Genetic investigation, however, revealed Cooks syndrome with unexplained facial dysmorphology. Concerning her cosmetic complaints, options for surgical treatment were discussed. It was decided to treat only the...