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Craniofacial dyssynostosis: Case report and review
Author(s) -
Grosso Salvatore,
Vivarelli Rossella,
Muraca Maria Carmela,
Berardi Rosario,
Marconcini Silvia,
Morgese Guido,
Balestri Paolo
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30186
Subject(s) - craniofacial , sagittal suture , medicine , sagittal plane , sella turcica , short stature , corpus callosum , anatomy , epilepsy , orthodontics , pediatrics , psychiatry
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.