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, 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.
Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Siena, Italy.
Salvatore
S
Grosso
Rossella
R
Vivarelli
Maria Carmela
MC
Muraca
Rosario
R
Berardi
Silvia
S
Marconcini
Guido
G
Morgese
Paolo
P
Balestri
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000002:abnormalities*; D002648:Child; D003394:Craniofacial Dysostosis / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D015835:Ocular Motility Disorders / Q000473:pathology; D010641:Phenotype; D014564:Urogenital Abnormalities / Q000473:pathology