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.

Grosso, S., Vivarelli, R., Muraca, M.C., Berardi, R., Marconcini, S., Morgese, G., et al. (2004). Craniofacial dyssynostosis: case report and review. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 129A(3), 300-302 [10.1002/ajmg.a.30186].

Craniofacial dyssynostosis: case report and review

Grosso, S.;Muraca, M. C.;Berardi, R.;Marconcini, S.;Morgese, G.;Balestri, P.
2004-01-01

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.
Grosso, S., Vivarelli, R., Muraca, M.C., Berardi, R., Marconcini, S., Morgese, G., et al. (2004). Craniofacial dyssynostosis: case report and review. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 129A(3), 300-302 [10.1002/ajmg.a.30186].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/1000657
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