Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders
نویسندگان
چکیده
منابع مشابه
Three-dimensional ultrasonographic appearance of the fetal akinesia deformation sequence.
OBJECTIVE To present the appearance of the fetal akinesia deformation sequence by three-dimensional ultrasonography after four-dimensional ultrasonographic scanning. METHODS Three-dimensional surface-rendering images were used to show the fixed postural abnormalities of the fetal extremities and body. Four-dimensional ultrasonography was used to show that the postural abnormalities were fixed...
متن کاملFetal akinesia deformation sequence: a case report and review of literature
Fetal Akinesia Deformation Sequence (FADS) is a condition characterised by decreased fetal movement (fetal akinesia), multiple joint contractures (arthrogryposis), facial anomalies, intrauterine growth restriction, pulmonary hypoplasia and other developmental abnormalities. These disorders are clinically and genetically heterogenous and its etiology remains unclear. This syndrome is rare and th...
متن کاملGermline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome
INTRODUCTION Foetal akinesia deformation sequence syndrome (FADS) is a genetically heterogeneous disorder characterised by the combination of foetal akinesia and developmental defects which may include pterygia (joint webbing). Traditionally multiple pterygium syndrome (MPS) has been divided into two forms: prenatally lethal (LMPS) and non-lethal Escobar type (EVMPS) types. Interestingly, FADS,...
متن کاملFetal acetylcholine receptor inactivation syndrome
BACKGROUND Transient neonatal myasthenia gravis (TNMG) affects a proportion of infants born to mothers with myasthenia gravis (MG). Symptoms usually resolve completely within the first few months of life, but persistent myopathic features have been reported in a few isolated cases. METHODS Here we report 8 patients from 4 families born to mothers with clinically manifest MG or mothers who wer...
متن کاملSalbutamol-responsive fetal acetylcholine receptor inactivation syndrome.
Citing this paper Please note that where the full-text provided on King's Research Portal is the Author Accepted Manuscript or Post-Print version this may differ from the final Published version. If citing, it is advised that you check and use the publisher's definitive version for pagination, volume/issue, and date of publication details. And where the final published version is provided on th...
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: The American Journal of Human Genetics
سال: 2008
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2007.11.006