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.
Grosso
Salvatore
S
Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Siena, Italy.
Vivarelli
Rossella
R
Muraca
Maria Carmela
MC
Berardi
Rosario
R
Marconcini
Silvia
S
Morgese
Guido
G
Balestri
Paolo
P
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