Article
Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.
Birth defects research. Part A, Clinical and molecular teratology - 1 Apr 2016
Smigiel Robert, Cabala Magdalena, Jakubiak Aleksandra, Kodera Hirofumi, Sasiadek Marek J, Matsumoto Naomichi, Sasiadek Maria M, Saitsu Hirotomo
Abstract excerpt
BACKGROUND: A clinical case is described of growth retardation, severe developmental delay, facial dysmorphic features with microcephaly, as well as congenital cataract, schizencephaly, periventricular calcifications, and epilepsy. METHODS: TORCH infection was suspected, but all tests for toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus were negative for the child and her mother; however, an...
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