1.
Clin Case Rep
; 9(12): e04882, 2021 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34917359
RESUMO
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.
2.
Clin Case Rep
; 8(6): 1010-1014, 2020 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32577254
RESUMO
We report a fetus with heterogeneous colonic content, an isolated sonographic prenatal sign of lysinuric protein intolerance, a very rare metabolic disease. Familial genetic enquiries confirmed heterozygote mutation in the implicated gene in parents. The prenatal diagnosis led to neonatal dietary adaptation and avoided acute complications.