Craniofacial dyssynostosis: Case report and review

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, hydronephros...

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Bibliographic Details
Published in:	American journal of medical genetics. Part A Vol. 129A; no. 3; pp. 300 - 302
Main Authors:	Grosso, Salvatore, Vivarelli, Rossella, Muraca, Maria Carmela, Berardi, Rosario, Marconcini, Silvia, Morgese, Guido, Balestri, Paolo
Format:	Journal Article
Language:	English
Published:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-09-2004
Subjects:	Abnormalities, Multiple - pathology agenesis of the corpus callosum Brain - abnormalities Child Craniofacial Dysostosis - pathology craniosynostosis epilepsy Humans Intellectual Disability Male mental retardation Ocular Motility Disorders - pathology Phenotype Urogenital Abnormalities - pathology
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Summary:	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. © 2004 Wiley‐Liss, Inc.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.30186