Fetal akinesia deformation sequence with pontocerebellar hypoplasia, and migration and gyration defects
Autops. Case Rep
;
11: e2021323, 2021. graf
Article
in English
| 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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Arthrogryposis
Limits:
Female
/
Humans
/
Infant, Newborn
Language:
English
Journal:
Autops. Case Rep
Journal subject:
Anatomia
/
Patologia Cl¡nica
/
Patologia Legal
Year:
2021
Type:
Article
Affiliation country:
United States
Institution/Affiliation country:
C.W. Bill Young VA Medical Center/US
/
Norton Healthcare/US
/
Vanderbilt University Medical Center/US
Similar
MEDLINE
...
LILACS
LIS