Prenatal diagnosis of Blepharo-Cheilo-Dontic syndrome: a case report
A. Rejaey, C. Berg, A. Reuss, I. Gottschalk
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.
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.
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Taxonomy
TopicsOcular Disorders and Treatments · Congenital Ear and Nasal Anomalies · Cleft Lip and Palate Research