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Fetal akinesia deformation sequence with pontocerebellar hypoplasia, and migration and gyration defects
Kapp, Meghan Elizabeth; Lyle, Pamela; Nickols, Hilary Highfield.
  • Kapp, Meghan Elizabeth; Vanderbilt University Medical Center. Department of Pathology, Microbiology and Immunology. Nashville. US
  • Lyle, Pamela; C.W. Bill Young VA Medical Center. Department of Pathology & Laboratory Medicine Services. Bay Pine. US
  • Nickols, Hilary Highfield; Norton Healthcare. CPA Laboratory. Louisville. US
Autops. Case Rep ; 11: e2021323, 2021. graf
Artículo en Inglés | LILACS | ID: biblio-1339244
ABSTRACT
Fetal akinesia deformation sequence (FADS), or Pena-Shokeir phenotype is a constellation of deformational changes resulting from decreased or absent fetal movement, and include arthrogryposis, and craniofacial and central nervous system anomalies. We report an autopsy case of a 36-6/7week female neonate with a normal female karyotype and chromosome microarray demonstrating findings consistent with FADS. We provide a detailed examination of the severe and complex central nervous system abnormalities, including marked pontocerebellar hypoplasia and cortical and cerebellar migration and gyration defects. This case represents a rare detailed examination of the central nervous system of a patient with FADS.
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Texto completo: Disponible Índice: LILACS (Américas) Asunto principal: Artrogriposis Límite: Femenino / Humanos / Recién Nacido Idioma: Inglés Revista: Autops. Case Rep Asunto de la revista: Anatomia / Patologia Cl¡nica / Patologia Legal Año: 2021 Tipo del documento: Artículo País de afiliación: Estados Unidos Institución/País de afiliación: C.W. Bill Young VA Medical Center/US / Norton Healthcare/US / Vanderbilt University Medical Center/US

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Texto completo: Disponible Índice: LILACS (Américas) Asunto principal: Artrogriposis Límite: Femenino / Humanos / Recién Nacido Idioma: Inglés Revista: Autops. Case Rep Asunto de la revista: Anatomia / Patologia Cl¡nica / Patologia Legal Año: 2021 Tipo del documento: Artículo País de afiliación: Estados Unidos Institución/País de afiliación: C.W. Bill Young VA Medical Center/US / Norton Healthcare/US / Vanderbilt University Medical Center/US