نتایج جستجو برای: crouzon syndrome

تعداد نتایج: 621949  

2016
Simon Pius Halima Abubakar Ibrahim Mustapha Bello Kefas Mbaya Jose Pwavimbo Ambe

Apert syndrome, also known as acrocephalosyndactyly, is one of the causes of craniofacial syndrome or deformity. It is a rare congenital disorder characterized by premature fusion of cranial sutures (craniosynostosis), malformation of skull, hands, face and feet. This congenital deformity has incidence of 1/50,000 to 1/80,000 live births and is an autosomal dominant in inheritance. Apert syndro...

2005
G McGillivray R Savarirayan T C Cox C Stojkoski R McNeil A Bankier J F Bateman T Roscioli R J M Gardner S R Lamandé

C raniosynostosis, the premature fusion of one or more sutures of the skull, is a common craniofacial anomaly, with an estimated incidence of 1/2000 to 1/3000 births. 2 Characteristic deformities of skull shape occur as a result of different patterns of sutural fusion, while compensatory skull expansion occurs at unaffected sutures to accommodate the growing brain. Premature fusion of the sagit...

Journal: :Cukurova Medical Journal 2018

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...

2009
Paula Simões Múfalo Rosane de Oliveira Fortes Kaizer Gisele da Silva Dalben Ana Lúcia Pompéia Fraga de Almeida

Craniosynostosis syndromes are characterized by premature closure of one or more cranial sutures, associated with other malformations, the most frequent of which are the Crouzon and Apert syndromes. Few studies in the literature have addressed the oral health of these individuals. The purpose of this study was to compare the periodontal status of individuals with Apert, Crouzon, Pfeiffer and Sa...

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