Clival Malformations in CHARGE Syndrome
نویسندگان
چکیده
منابع مشابه
Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports
Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. CHD7 gene mutati...
متن کاملArteriovenous malformations in Cowden syndrome.
Cowden syndrome (OMIM No 158350) is a pleomorphic, autosomal dominant syndrome characterised by hamartomas in tissues derived from the endoderm, mesoderm, and ectoderm. It is caused by germline mutations in the PTEN gene and is allelic to the Bannayan-Riley-Ruvalcaba and Lhermitte-Duclos syndromes. The three syndromes are defined on clinical grounds but there is overlap in their definitions. Th...
متن کاملBehavior in CHARGE syndrome.
Unusual behavior is often associated with genetic syndromes, and may constitute a behavioral phenotype. In contrast to providing a psychiatric diagnosis, a behavioral phenotype describes what is unique to the behavior associated with different syndromes. While behaviors in CHARGE are as complex and variable as other aspects of the syndrome, there are some commonalities that raise the question o...
متن کاملCHARGE syndrome
CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with al...
متن کامل[Heart malformations in children with Down syndrome].
INTRODUCTION AND OBJECTIVES A longitudinal, retrospective, observational descriptive study was done at the National Institute of Pediatrics in Mexico City to determine the incidence, type of heart disease and clinical course in patients with Down syndrome (DS), and to compare the findings with data from other countries. Down syndrome is a disease caused by trisomy of chromosome 21. The frequenc...
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ژورنال
عنوان ژورنال: American Journal of Neuroradiology
سال: 2018
ISSN: 0195-6108,1936-959X
DOI: 10.3174/ajnr.a5612