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January 23, 2026Archives of Gynecology and Obstetrics0 citationsOpen Access

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

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ARA. RejaeyCBChristoph BergARA. Reuss

Key Points

  • This case report aims to detail the prenatal diagnosis of Blepharo-Cheilo-Dontic syndrome and its genetic basis.
  • Conducted a sonographic diagnosis of cleft lip and palate and persistent open eyelids.
  • Performed amniocentesis to obtain genetic material.
  • Utilized molecular genetics to confirm the diagnosis of Blepharo-Cheilo-Dontic syndrome.
  • Confirmed a de-novo mutation of the CDH1 gene linked to the syndrome.
  • Informed multidisciplinary counseling led to the termination of the pregnancy.

Abstract

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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Cite This Study

Rejaey et al. (2026) studied this question.

synapsesocial.com/papers/69731005c8125b09b0d1fcc3https://doi.org/10.1007/s00404-025-08268-0
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