نتایج جستجو برای: craniosynostosis

تعداد نتایج: 2854  

Journal: :American journal of human genetics 2002
Shih-hsin Kan Navaratnam Elanko David Johnson Laura Cornejo-Roldan Jackie Cook Elsa W Reich Susan Tomkins Alain Verloes Stephen R F Twigg Sahan Rannan-Eliya Donna M McDonald-McGinn Elaine H Zackai Steven A Wall Maximilian Muenke Andrew O M Wilkie

It has been known for several years that heterozygous mutations of three members of the fibroblast growth-factor-receptor family of signal-transduction molecules-namely, FGFR1, FGFR2, and FGFR3-contribute significantly to disorders of bone patterning and growth. FGFR3 mutations, which predominantly cause short-limbed bone dysplasia, occur in all three major regions (i.e., extracellular, transme...

Journal: :Anesthesiology 2015
Susan M Goobie David Zurakowski Mark R Proctor John G Meara Petra M Meier Vanessa J Young Gary F Rogers

BACKGROUND Craniosynostosis surgery is associated with clinically significant postoperative events requiring intensive care unit (ICU) admission. The authors investigate specific variables, which might influence the risk for these events, and thereby make recommendations regarding the need for postoperative ICU admission. METHODS A retrospective review of 225 children undergoing open craniosy...

Journal: :Pediatrics 1997
G M Sloan K C Wells C Raffel J G McComb

OBJECTIVE Surgery for craniosynostosis has evolved rapidly over the past two decades, with increased emphasis on early, extensive operations. Older published series may not accurately reflect more recent experience. Our study was designed to analyze outcome in a large series of consecutive patients treated recently at a single center. METHODS We reviewed 250 consecutive patients who underwent...

2018
Andrea E. Copeland Caitlin E. Hoffman Vassilios Tsitouras Dhruve S. Jeevan Emily S. Ho James M. Drake Christopher R. Forrest

Background The pattern of cranial venous drainage in syndromic craniosynostosis is unpredictable and not adequately understood. Collateral channels substitute for stenotic venous sinuses and pose potential risk for surgical intervention. The purpose of this study was to analyze the patterns of venous drainage in patients with syndromic craniosynostosis and their influence on operative planning ...

Journal: :Human Molecular Genetics 1997

Journal: :Pediatric Neurology Briefs 1997

Atyeh Ebadi Behrooz Barikbin Zahra Saffarian

Crouzon syndrome is a rare inherited autosomal dominant syndrome characterized by craniosynostosis, midface hypoplasia. Acanthosis nigricans may be associated with Crouzon syndrome, but it differs from the classic crouzon syndrome. This is a report of a 30-year-old-woman who presented acanthosis nigricans coexist with crouzon syndrome.

2003
Kai Yu Jingsong Xu Zhonghao Liu Drazen Sosic Jiansu Shao Eric N. Olson Dwight A. Towler David M. Ornitz

Mutations in fibroblast growth factor receptor (FGFR) 2 are responsible for several clinically distinct craniosynostosis syndromes in humans (Naski and Ornitz, 1998; Ornitz and Marie, 2002; Wilkie, 1997). These syndromes share a common feature; premature fusion of at least one of the cranial sutures. However, craniosynostosis syndromes also have distinct facial features and some have characteri...

Journal: :Anesthesiology 2012
Girish P Joshi

more, none of the children in the TXA group required blood transfusion in the first 24 h postoperatively, whereas 50% who did not receive TXA required transfusion. TXA administration significantly diminished (by two-thirds) the exposure of patients to transfused blood compared to placebo (medians: 1 unit vs. 3 units, P 0.001). We do not concur with the conclusions Meyer et al. drew by comparing...

Journal: :Journal of pediatric ophthalmology and strabismus 2013
Jamie B Rosenberg Oren M Tepper Norman B Medow

Strabismus is common in craniosynostosis, with rates from 39% to 90.9% in Crouzon, Apert, Pfeiffer, and Saethre-Chotzen syndromes. This article reviews the epidemiology of strabismus in these disorders and discusses competing theories of the mechanism, including absent muscles, excyclorotation of muscles, and instability of muscle pulleys. The authors then review options for surgical treatment ...

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