Open AccessA prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene
Author(s) -
Balza Claire,
Garofalo Giulia,
Cos Teresa,
Désir Julie,
Kang Xin,
Keymolen Kathelijn,
Soblet Julie,
Van Berkel Kim,
Vilain Catheline,
Ben Abbou Wafa,
Cassart Marie
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.4882
Subject(s) - lissencephaly , cerebellar hypoplasia (non human) , medicine , hypoplasia , prenatal diagnosis , cerebellum , mutation , pathology , fetus , anatomy , gene , genetics , pregnancy , biology
Abstract Reelinopathies cause a distinctive lissencephaly type associated with cerebellar hypoplasia. To help further management, we wanted to report here the first prenatal diagnosis due to a homozygous inherited reelinopathy.