Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12–19p13.2
نویسندگان
چکیده
منابع مشابه
Chromosome 6 microdeletion in a patient with syndromic congenital cranial dysinnervation disorder
T congenital cranial dysinnervation disorders (CCDDs) encompass most congenital, static restrictions of ocular motility, often associated with ptosis, and retraction of the globe.1 The CCDDs can be monogenic or chromosomal in origin. Although chromosomal copy number variations (CNVs) has been reported in patients with syndromic CCDDs,2 but there are still patients for whom the genetic basis has...
متن کاملGenetic analysis of non-syndromic craniosynostosis.
Craniosynostosis is a common malformation occurring in 3-5 per 10,000 live births. Most often craniosynostosis occurs as an isolated (i.e. non-syndromic) anomaly. Non-syndromic craniosynostosis (NSC) is a clinically and genetically heterogeneous condition that has the characteristics of a multifactorial trait. It is believed that each sutural synostosis (e.g. sagittal, coronal) represents a dif...
متن کاملComparison of Periodontal Parameters in Individuals with Syndromic Craniosynostosis
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...
متن کاملGenotypic and phenotypic analyses of Korean patients with syndromic craniosynostosis.
To the Editor : Craniosynostosis, the premature fusion of one or more cranial sutures, is a common malformation occurring in approximately 1 in 2500 live births (1), and ocular hypertelorism, proptosis, beaking of the nose and midface hypoplasia are the common facial features of the craniosynostosis (2, 3). The syndromic craniosynostosis is the hereditary form of craniosynostosis, which is asso...
متن کاملChromosome 15q24 microdeletion syndrome
Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depr...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Genes & Diseases
سال: 2015
ISSN: 2352-3042
DOI: 10.1016/j.gendis.2015.09.001