Work

Prenatal diagnosis of Blepharo-Cheilo-Dontic syndrome: a case report

Year: 2026

Type: article

Abstract: This case report describes the prenatal diagnosis of the extremely rare Blepharo-Cheilo-Dontic syndrome. After sonographic diagnosis of the bilateral cleft lip and palate and the persistent open eyelids, amniocentesis with subsequent molecular genetics confirmed the sonographically presumed de-novo mutation of the CDH1 gene and the Blepharo-Cheilo-Dontic Syndrome. After multidisciplinary counseling the patients termined the pregnancy.

Source: Archives of Gynecology and Obstetrics

DOI: 10.1007/s00404-025-08268-0

Authors: A. Rejaey, C. Berg, A. Reuss, I. Gottschalk

Institutions: University of Cologne, University Hospital Cologne

Language: English

Topic: Cleft Lip and Palate Research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $4,590