Prenatal growth retardation, microcephaly, and eye coloboma in infant with multiple congenital anomalies: Further delineation of presumed new dysmorphic syndrome

Abstract

To the best of our knowledge, this is the second family and the fourth case with this pattern of birth defects reported worldwide so far. We presume that this combination of multiple congenital anomalies and growth retardation constitutes a newly recognized syndrome of likely autosomal recessive inheritance. So far no data suggest etiological impact of consanguinity, parental age, or environmental factors.

Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant

“…Before the definition of BWCFF syndrome and the identification of the causative genes, there is an additional case report of an infant with intrauterine growth restriction (IUGR) and postnatal features consistent with BWCFF, although a molecular diagnosis was never achieved to our knowledge (Cuturilo et al, 2008). Details of prenatal course or description of any other prenatally-identified anomalies in this individual are limited.…”