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

## TL;DR

This case report details the prenatal diagnosis of a rare syndrome involving facial and dental abnormalities.

## Contribution

The paper presents a rare prenatal case of Blepharo-Cheilo-Dontic syndrome confirmed through molecular genetics.

## Key findings

- Sonography identified bilateral cleft lip and palate and open eyelids.
- Molecular genetics confirmed a de-novo mutation in the CDH1 gene.
- The pregnancy was terminated after multidisciplinary counseling.

## 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.