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.
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Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype?
Am J Med Genet A
May 2009
Department of Pediatrics, University of Washington, Seattle, Washington 98195-6320, USA.
Article Synopsis
- Multisutural craniosynostosis, particularly bilateral lambdoid and sagittal synostosis (BLSS), results in a unique head shape characterized by features like frontal bossing and ear misplacement.
- It has been documented in both genetics and surgical literature, with the term "Mercedes Benz" syndrome introduced in 1998 to describe its distinctive appearance on CT scans.
- Recent studies show a mix of cases with normal development and distinct chromosomal anomalies, indicating that BLSS may be a diverse condition with different forms, which will be further explored in the manuscript.
Craniofacial dyssynostosis in two boys with apparently normal cognitive development.
Am J Med Genet A
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Medical School, University of Michigan, Ann Arbor, Michigan, USA.
Craniofacial dyssynostosis: description of the first four Spanish cases and review.
Am J Med Genet A
January 2005
ECEMC, CIAC, Instituto de Salud Carlos III, Madrid, Spain.
Craniofacial dyssynostosis (CD) is characterized by premature fusion of the lambdoid and posterior part of the sagittal sutures, and short stature. Thus, the skull shape becomes dolichocephalic with protuberant forehead and either bulging or flat occiput. Facial changes are secondary to the skull defects, and some additional findings have also been described.
View Article and Find Full Text PDFCraniofacial dyssynostosis: case report and review.
Am J Med Genet A
September 2004
Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Siena, Italy.
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.
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