Literature DB >> 15326632

Craniofacial dyssynostosis: case report and review.

Salvatore Grosso1, Rossella Vivarelli, Maria Carmela Muraca, Rosario Berardi, Silvia Marconcini, Guido Morgese, Paolo Balestri.   

Abstract

Craniofacial dyssynostosis (CFD) is a rare disorder related to premature closure of the lambdoid suture and the posterior part of the sagittal suture. Epilepsy, mental retardation, abnormalities of the corpus callosum, and short stature have been reported. We studied a patient with CFD, hydronephrosis, and partially empty sella turcica; the latter two features are reported for the first time. We discuss the brain anomalies and their neurologic sequelae, which are part of the CFD phenotype.

Entities:  

Mesh:

Year:  2004        PMID: 15326632     DOI: 10.1002/ajmg.a.30186

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  1 in total

1.  Bilambdoid and sagittal synostosis: Report of 39 cases.

Authors:  Nathalie Chivoret; Eric Arnaud; Kim Giraudat; Frazer O'Brien; Leslie Pamphile; Philippe Meyer; Dominique Renier; C Collet; Federico Di Rocco
Journal:  Surg Neurol Int       Date:  2018-10-11
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.