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Childs Nerv Syst 2021 Apr 18. Epub 2021 Apr 18.

Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital, Av. Adolpho Lutz, 100, Caixa Postal 6028, Campinas, São Paulo, 13084-880, Brazil.

Purpose: The most commonly occurring syndromic craniosynostoses are Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and Saethre-Chotzen syndrome. There is insufficient data regarding postoperative syndrome-related outcomes following the posterior vault distraction osteogenesis (PVDO) procedure, as well as data addressing whether or not additional procedures will be subsequently necessary to comprehensively treat children who undergo PVDO. Thus, the objective of this study is to describe and compare syndrome-related potential complications and outcomes associated with the PVDO procedure. Read More

Am J Med Genet A 2021 Apr 12. Epub 2021 Apr 12.

Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.

CHARGE syndrome is a rare genetic multiple-malformation disorder characterized by wide phenotypic variability. It is often caused by heterozygous variants in CHD7 and, more rarely, SEMA3E. Although craniofacial alterations are frequent in this condition, to date craniosynostosis is not considered part of the clinical spectrum. Read More

Childs Nerv Syst 2021 Apr 7. Epub 2021 Apr 7.

Pediatric Neurosurgery, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy.

Introduction: Hydrocephalus is variously associated to syndromic craniosynostosis (CS), while it is randomly encountered in monosutural CS. Pathogenesis is still debated and reliable criteria for the diagnosis of overt hydrocephalus are lacking. Additionally, optimal treatment is controversial since it should balance the need to relieve intracranial hypertension and the risk of recurrence favored by lowering intracranial pressure. Read More

Neoreviews 2021 Apr;22(4):e250-e257

Department of Pediatrics, Division of Neonatal-Perinatal Medicine, Mattel Children's Hospital and the David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA.

Craniosynostosis is the premature fusion of 1 or more sutures that normally separate the bony plates of an infant's skull and occurs in about 1 in 2,000 to 2,500 live births. Primary or congenital craniosynostoses represent the majority of cases and consist of single-suture and multisuture synostoses. Multisuture synostoses are typically associated with distinct craniofacial syndromes, including Muenke syndrome, Apert syndrome, Crouzon syndrome, and Pfeiffer syndrome, and are thus categorized under syndromic craniosynostoses. Read More

Neurosurg Focus 2021 Apr;50(4):E13

2Plastic Surgery, NewYork-Presbyterian Hospital, Weill Cornell Medical Center; and.

Craniosynostosis is the premature fusion of the skull. There are two forms of treatment: open surgery and minimally invasive endoscope-assisted suturectomy. Candidates for endoscopic treatment are less than 6 months of age. Read More