A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene

Clinical Case Reports

Kathelijn Keymolen¹  Kim Van Berkel¹  Claire Balza²  Marie Cassart²  Giulia Garofalo²  Wafa Ben Abbou³  Julie Soblet⁴  Catheline Vilain⁴  Teresa Cos⁵  Xin Kang⁵  Julie Désir⁶ 

[1] Belgium Center for Reproduction and Genetics Universitair Ziekenhuis Brussel Brussels Belgium;Department of Fetal Medicine CHU Saint‐Pierre Brussels Belgium;Department of Fetal Medicine Hôpitaux Iris Sud Brussels Belgium;Department of Genetics Hôpital ErasmeULB Center of Human GeneticsUniversité Libre de Bruxelles (ULB) Brussels Belgium;Department of Obstetrics and Gynecology University Hospital BrugmannUniversité Libre de Bruxelles Brussels Belgium;Institut de Pathologie et de Génétique a.s.b.l. Charleroi Belgium;

关键词: cerebellar hypoplasia;    lissencephaly;    reelinopathy;    RELN;   

DOI  :  10.1002/ccr3.4882

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown