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DOOR syndrome: report of three additional cases.

Têmis Maria Félix1, Simone de Menezes Karam, Valter Augusto Della Rosa

  • 1Serviçio de Genética Médica, Hospital de Clinicas de Porto Alegre, Rio Grande do Sul, Brazil. tfelix@hcpa.ufrgs.br

Clinical Dysmorphology
|May 11, 2002
PubMed
Summary

Three Brazilian children with DOOR syndrome, a rare genetic disorder, were identified. These cases, lacking organic acid abnormalities, represent Type II DOOR syndrome and highlight a potential association with congenital heart defects.

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Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • DOOR syndrome, characterized by Deafness, Onychodystrophy, Osteodystrophy, and intellectual disability, is a rare genetic disorder.
  • Understanding the genetic basis and clinical spectrum of DOOR syndrome is crucial for diagnosis and management.

Observation:

  • Three unrelated Brazilian children with DOOR syndrome were identified and studied.
  • One child presented with a concurrent congenital cardiac defect, suggesting a potential co-occurrence.

Findings:

  • All three cases lacked organic acid abnormalities, confirming their classification as Type II DOOR syndrome.
  • The presence of a congenital cardiac defect in one case warrants further investigation into potential genotype-phenotype correlations.

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Implications:

  • These findings expand the documented cases of Type II DOOR syndrome globally.
  • Further research may elucidate the genetic factors contributing to both DOOR syndrome and congenital heart defects, aiding in early diagnosis and intervention.