Genetic Syndromes Associated with Craniosynostosis
نویسندگان
چکیده
منابع مشابه
Genetic Syndromes Associated with Craniosynostosis
Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated wit...
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Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific overgrowth disorders continue to improve clinicians' ability to make an accurate diagnosis. Among them, this paper introduces two classic genetic ov...
متن کاملGenetic Syndromes associated with Congenital Heart Disease
Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently under development. Congenital heart disease is frequently accompanied by genetic syndromes showing both cardiac and extra-cardiac anomalies. Congenital heart disease is the l...
متن کاملChiari malformation associated with craniosynostosis.
OBJECT Chiari malformation (CM) Type I is frequently associated with craniosynostosis. Optimal management of CM in patients with craniosynostosis is not well-established. The goal of this study was to report on a series of pediatric patients with both craniosynostosis and CM and discuss their management. METHODS The authors searched the medical records of 383 consecutive patients treated for ...
متن کاملAlobar holoprosencephaly associated with cebocephaly and craniosynostosis.
Cebocephaly is a very rare congenital midline facial anomaly characterized by a blind-ended single nostril and ocular hypotelorism, and is usually combined with alobar holoprosencephaly. We report here a case of alobar holoprosencephaly with cebocephaly and craniosynostosis. Chromosomal analysis revealed normal karyotyping. The facial dysmorphism was characterized by the single nostril, hypotel...
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ژورنال
عنوان ژورنال: Journal of Korean Neurosurgical Society
سال: 2016
ISSN: 2005-3711,1598-7876
DOI: 10.3340/jkns.2016.59.3.187