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746 Possible Causes for Fetal Akinesia Sequence

  • Alpers Syndrome

    Neurology. 2005 Nov 8;65(9):1493-5. Epub 2005 Sep 21. Author information 1 Mitochondrial and Metabolic Disease Center, Department of Medicine, University of California, San Diego, CA, USA. Abstract Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following[…][ncbi.nlm.nih.gov]

  • Neurogenic Arthrogryposis Multiplex Congenita

    sequence.[orpha.net] Arthrogryposis multiplex congenita (AMC), called fetal akinesia sequence (FAS) in this study of 5 lethal cases, was associated with a distinctive neuropathological pattern[pediatricneurologybriefs.com] Akinesia-Arthrogryposis Sequence' (FAAS), a multietiologic clinical syndrome caused by muscular inactivity in utero.[archive.rsna.org]

  • Arthrogryposis Multiplex Congenita

    sequence.[orpha.net] Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.[orpha.net] Its etiology still remains unclear but generally any cause that leads to reduced fetal movement may lead to congenital contractures and in severe cases to fetal akinesia deformation[ncbi.nlm.nih.gov]

  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    The fetal akinesia hypothesis suggests that early embryonic immobility is the critical factor in the pathogenesis of the pterygia.[fetalultrasound.com] akinesia sequence 0001989 Flexion contracture Flexed joint that cannot be straightened 0001371 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypoplastic[rarediseases.info.nih.gov] Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: A review.[jfmpc.com]

  • Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

    sequence.[orpha.net] Fetal Diagn Ther. 1998 Jan-Feb. 13(1):35-8. [Medline]. Chen H. Fetal Akinesia Sequence. Atlas of Genetic Diagnosis and Counseling. 2nd.[emedicine.com] Ulnar deviation of the hands, rocker-bottom feet, camptodactyly, sparse dermal ridges and absence of palmar flexion creases are the other components of the fetal akinesia[orpha.net]

  • Arthrogryposis Syndrome

    Pena Shokeir Phenotype (Fetal akinesia deformation sequence) Revisited. Birth Defects Res A, 2009;85:677-694. Bamshad M, van Heest AE, Pleasure D.[rarediseases.org] Hall JG: Pena Shokeir phenotype (fetal akinesia deformation sequence) revisited. Birth Defects Res A Clin Mol Teratol 85:677-694 (2009).[karger.com] Moerman P, Fryns JP: The fetal akinesia deformation sequence. A fetopathological approach. Genetic Counseling 1:25–33, 1990. PubMed Google Scholar 43.[link.springer.com]

  • Pulmonary Hypoplasia and Dysplasia

    279 Fetal Akinesia Sequence 286 Abdominal Pregnancy Extrauterine Pregnancy 292 Early Embryonic Compression or Disruption 296 Obstetric ProcedureRelated Defects 303 MECHANICS[books.google.com] akinesia-hypokinesia sequence (autosomal recessive)/scimitar syndrome [ 5 ] and trisomy 21 .[patient.info] 251 Transverse Lie Deformation 263 Face and Brow Presentation Deformation 266 WHOLEBODY DEFORMATION OR DISRUPTION 271 Small Uterine Cavity Deformation 273 Oligohydramnios Sequence[books.google.com]

  • Congenital Myopathy with Excess of Thin Filaments

    Moerman Ph, Fryns JP: The fetal akinesia deformation sequence – A fetopathological approach. Genet Counsel 1990;1:25–33.[karger.com] Fetal akinesia sequence caused by nemaline myopathy. Neuropediatrics 28 , 116–119 (1997). 26. Laing, N.G.[nature.com] The first is characterized by severe perinatal disorder presenting as fetal akinesia deformation sequence (FADS) with by multiple congenital contractures (arthrogryposis multiplex[sites.google.com]

  • Hypercholesterolemia

    akinesia sequence Noonan syndrome (autosomal dominant with variable penetrance) Perlman/familial nephroblastomatosis syndrome (inheritance uncertain) Simpson-Golabi-Behmel[emedicine.medscape.com] […] syndrome (excess of males, thus probably X-linked) Lethal short-limbed dwarfism McKusick-Kaufman syndrome Myotonic dystrophy (autosomal dominant) Nemaline myopathy with fetal[emedicine.medscape.com]

  • Nemaline Myopathy

    Abstract Nine patients with the characteristic signs of fetal akinesia sequence (polyhydramnion, multiple joint contractures and lung hypoplasia) are described.[ncbi.nlm.nih.gov] At the very severe end of the NEM clinical spectrum are genetically unresolved cases of autosomal-recessive fetal akinesia sequence.[ncbi.nlm.nih.gov] The patient manifested fetal akinesia, neonatal severe hypotonia with muscle weakness, respiratory insufficiency, swallowing disturbance, and ophthalomoplegia.[ncbi.nlm.nih.gov]

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