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Related Experiment Videos

Langer-Giedion syndrome associated with submucous cleft palate.

D Morioka1, T Suse, Y Shimizu

  • 1Department of Plastic and Reconstructive Surgery at Showa University, Tokyo, Japan.

Plastic and Reconstructive Surgery
|April 6, 1999
PubMed
Summary

Langer-Giedion syndrome, a rare genetic disorder, was identified in a young girl with a cleft palate. This case highlights the syndrome

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Area of Science:

  • Genetics
  • Pediatrics
  • Plastic Surgery

Background:

  • Langer-Giedion syndrome (trichorhinophalangeal syndrome type II) is a rare genetic disorder characterized by specific facial features, sparse hair, and skeletal abnormalities.
  • Submucous cleft palate is a congenital condition affecting the roof of the mouth.
  • The genetic basis of Langer-Giedion syndrome involves a deletion on chromosome 8.

Observation:

  • A 4-year-old girl presented with features consistent with Langer-Giedion syndrome.
  • The patient also had a submucous cleft palate, which was surgically addressed.
  • Diagnosis of Langer-Giedion syndrome was confirmed by characteristic facial features, multiple exostoses, and a partial deletion of chromosome 8.

Findings:

  • This is the first reported case of Langer-Giedion syndrome associated with a cleft palate.

Related Experiment Videos

  • The study reviews the clinical spectrum of trichorhinophalangeal syndromes.
  • Differential diagnosis between Langer-Giedion syndrome, trichorhinophalangeal syndrome type I, and hereditary multiple exostoses is discussed.

    • Implications:

    • This case expands the known clinical manifestations of Langer-Giedion syndrome.
    • Understanding this association is crucial for comprehensive diagnosis and management.
    • The findings underscore the importance of considering genetic syndromes in patients with craniofacial anomalies, particularly in plastic surgery.
    • Further research into the genetic and clinical overlap between these conditions is warranted.