TY - JOUR
TI - Prenatal diagnosis of Baraitser-Winter syndrome using exome sequencing:
Clinical report and review of literature
AU - Maria, Papamichail
AU - Emmanouil, Manolakos
AU - Ioannis, Papoulidis and
AU - Elisavet, Siomou
AU - Anna, Eleftheriades
AU - Ioannis, Marinakis and
AU - Konstantinos, Tzanakis
AU - Anastasios, Sartsidis
AU - Nikolaos, Vlahos F.
AU - and Makarios, Eleftheriades
JO - European Journal of Medical Genetics
PY - 2021
VL - 64
TODO - 11
SP - null
PB - Elsevier
SN - 1769-7212
TODO - 10.1016/j.ejmg.2021.104318
TODO - Baraitser; Winter syndrome; Prenatal diagnosis; de novo mutation; ACTB
gene; Next generation sequencing
TODO - Baraitser - Winter Cerebrofrontofacial Syndrome (BWCFF) is a rare
disorder characterized by facial dysmorphism and mental retardation of
varying grades. The clinical phenotype of BWCFF indicates variable
phenotypic expression involving various congenital malformations such as
cardiac, renal and musculoskeletal abnormalities. Nevertheless, the
prenatal presentation of BWCFF is rarely described, making prenatal
diagnosis challenging. This report describes a prenatal diagnosis of
BWCFF syndrome to date; a case of a fetus with intrauterine growth
restriction, increased nuchal fold, bilateral hydronerphosis, rocker
bottom foot and clubfoot detected on Anomaly Scan is outlined. Molecular
karyotype failed to detect any abnormality. Assessment with Next
Generation Sequencing was then performed, revealing a heterozygous de
novo mutation in ACTB gene setting the diagnosis of BWCFF.
ER -