Fetal akinesia deformation sequence with pontocerebellar hypoplasia, and migration and gyration defects
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.
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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