Fetal akinesia deformation sequence with pontocerebellar hypoplasia, and migration and gyration defects
Autops. Case Rep
; 11: e2021323, 2021. graf
Article
in En
| LILACS
| ID: biblio-1339244
Responsible library:
BR26.7
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.
Key words
Full text:
1
Index:
LILACS
Main subject:
Arthrogryposis
Limits:
Female
/
Humans
/
Newborn
Language:
En
Journal:
Autops. Case Rep
/
Autopsy and Case Reports
Journal subject:
Anatomia
/
Patologia Cl¡nica
/
Patologia Legal
Year:
2021
Type:
Article