C syndrome - what do we know and what could the future hold?
In 1969 Opitz et al. described two siblings with a new syndrome, which they called ‘C syndrome of multiple congenital abnormalities’ and was presented as a ‘probably private syndrome’. After this first description, new cases appeared with highly similar phenotypes and a new syndrome, known as C Synd...
| Autores: | , , |
|---|---|
| Tipo de recurso: | artículo |
| Estado: | Versión aceptada para publicación |
| Fecha de publicación: | 2019 |
| País: | España |
| Institución: | Universidad de Barcelona |
| Repositorio: | Dipòsit Digital de la UB |
| OAI Identifier: | oai:diposit.ub.edu:2445/208921 |
| Acceso en línea: | https://hdl.handle.net/2445/208921 |
| Access Level: | acceso abierto |
| Palabra clave: | Crani Diagnòstic Malformacions Skull Diagnosis Human abnormalities |
| Sumario: | In 1969 Opitz et al. described two siblings with a new syndrome, which they called ‘C syndrome of multiple congenital abnormalities’ and was presented as a ‘probably private syndrome’. After this first description, new cases appeared with highly similar phenotypes and a new syndrome, known as C Syndrome, Opitz C Syndrome or Opitz Trigonocephaly Syndrome (OCS; MIM # 211,750) was firmly established. |
|---|