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Related Experiment Videos

Congenital healed cleft lip

E E Castilla1, M L Martínez-Frías

  • 1Departamento de Genética, Instituto Oswaldo Cruz, Fiocruz, Rio de Janeiro, Brazil.

American Journal of Medical Genetics
|August 28, 1995
PubMed
Summary
This summary is machine-generated.

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Congenital "healed" cleft lip (CHCL) is a rare birth defect resembling a surgically repaired cleft lip. This study found CHCL occurs in males more often, affects the left side, and may have a familial predisposition.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Pediatric Surgery

Background:

  • Congenital "healed" cleft lip (CHCL) is an uncommon condition presenting as a midline scar on the upper lip.
  • It is often accompanied by a vermilion notch and a collapsed nostril.

Observation:

  • A review of 3,950,715 births from ECEMC and ECLAMC registries identified 25 CHCL cases.
  • Eighteen of these cases were isolated malformations, with a male predominance (14/18) and left-sided preference (10/18).

Findings:

  • CHCL shares epidemiological characteristics with typical cleft lip, suggesting a potential variant.
  • Associated anomalies included hydrocephalus, VACTERL association, and atypical facial clefts.
  • Familial occurrence in two instances suggests a genetic predisposition.

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Implications:

  • CHCL may arise from early embryonic fusion defects or in-utero repair of an open cleft lip.
  • Understanding CHCL's etiology is crucial for genetic counseling and management of related anomalies.