Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant
نویسندگان
چکیده
منابع مشابه
[arthrogryposis Multiplex Congenita].
Arthrogryposis multiplex congenita (amyoplasia congenita) is an infrequent cause of’ severe crippling. Although it is often possible to alleviate tile grave disability which it cOtllrflOtlly causes, its rarity impedes the accumulation of enough clinical experience to establish guiditig principles and indications for surgical treatment. We have been able to examine fifty-two patients with this d...
متن کاملArthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita is a collective term applied to a very large number of different syndromes characterised by non-progressive, multiple joint contractures present at birth. [1, 2]The joints usually develop normally in early embryonic life but, as gestation progresses, movements are required to facilitate normal development. Where there are abnormalities that prevent this from o...
متن کاملArthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita is a collective term applied to a very large number of different syndromes characterised by non-progressive, multiple joint contractures present at birth. [1, 2]The joints usually develop normally in early embryonic life but, as gestation progresses, movements are required to facilitate normal development. Where there are abnormalities that prevent this from o...
متن کاملArthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita is a collective term applied to a very large number of different syndromes characterised by nonprogressive, multiple joint contractures present at birth. [1, 2]The joints usually develop normally in early embryonic life but, as gestation progresses, movements are required to facilitate normal development. Where there are abnormalities that prevent this from oc...
متن کاملArthrogryposis multiplex congenita—an update
This special issue of Journal of Children’s Orthopaedics includes seven papers on arthrogryposis multiplex congenita (AMC). Arthrogryposis is derived from the Greek words arthro (joint) and gryposis (crooked). The papers are based on lectures presented during the 31st Annual Meeting of the European Paediatric Orthopaedic Society (EPOS) held in Helsinki, April 18th–21st 2012, where EPOS Educatio...
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ژورنال
عنوان ژورنال: Human Genome Variation
سال: 2020
ISSN: 2054-345X
DOI: 10.1038/s41439-020-00116-8