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Method of Studying Palatal Fusion using Static Organ Culture
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Cleft Lip and Palate in Ectodermal Dysplasia.

Ingrid M Ganske1, Tim Irwin2, Olivia Langa3

  • 1Department of Plastic and Oral Surgery, 1862Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
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PubMed
Summary
This summary is machine-generated.

Cleft lip and/or palate (CL/P) occurs in 14% of ectodermal dysplasia (ED) patients, often presenting severely. Management challenges and outcomes in ED-associated CL/P require further investigation.

Keywords:
ectodermal dysplasiageneticssyndromic cleft lip and palate

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Area of Science:

  • Medical Genetics
  • Craniofacial Surgery
  • Pediatric Dentistry

Background:

  • Ectodermal dysplasia (ED) encompasses genetic syndromes affecting ectodermal structures.
  • Orofacial clefting is a known, though infrequent, association with certain ED types.
  • Understanding the prevalence and characteristics of cleft lip and/or palate (CL/P) in ED is crucial for comprehensive patient care.

Purpose of the Study:

  • To determine the prevalence and phenotypic characteristics of CL/P in patients diagnosed with ED.
  • To describe the management strategies and treatment outcomes for CL/P in this patient cohort.

Main Methods:

  • Retrospective chart review of patients with ED treated between 1990 and 2019.
  • Analysis of clinical data including phenotypic anomalies, cleft type, surgical interventions, and repair outcomes.
  • Genetic testing was performed on a subset of patients.

Main Results:

  • 14% (24/170) of ED patients had CL/P, with bilateral CL/P being most common (67%).
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome was the most frequent ED type (37%).
  • Pathogenic variants in TP63 were identified in genetically tested patients; high rates of fistula (8%) and velopharyngeal insufficiency (33%) were observed.

Conclusions:

  • Clefts in ED patients exhibit more severe phenotypes compared to the general CL/P population.
  • Specific management challenges, including palatal absence and postoperative complications, were noted.
  • Further research is needed to correlate genotype with phenotype across the ED spectrum.