| Literature DB >> 15326632 |
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