Τίτλος:
Prenatal diagnosis of Baraitser-Winter syndrome using exome sequencing:
Clinical report and review of literature
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Maria, Papamichail
Emmanouil, Manolakos
Ioannis, Papoulidis and
Elisavet, Siomou
Anna, Eleftheriades
Ioannis, Marinakis and
Konstantinos, Tzanakis
Anastasios, Sartsidis
Nikolaos, Vlahos F.
and Makarios, Eleftheriades
Περιοδικό:
European Journal of Medical Genetics
Λέξεις-κλειδιά:
Baraitser; Winter syndrome; Prenatal diagnosis; de novo mutation; ACTB
gene; Next generation sequencing
DOI:
10.1016/j.ejmg.2021.104318
