Lethality in Desbuquois dysplasia: three new cases

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B D Hall1

  • 1Department of Pediatrics, University of Kentucky College of Medicine, Lexington 40536-0284, USA. bdh@pop.uky.edu

Pediatric Radiology
|February 24, 2001
PubMed

Insights

Desbuquois syndrome, a severe skeletal dysplasia, has a high infant lethality rate of 33%. Affected infants often succumb to respiratory issues between birth and seven months of age.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • Desbuquois syndrome is a rare, severe skeletal dysplasia characterized by significant prenatal and postnatal growth retardation.
  • The syndrome exhibits considerable variability in clinical presentation, making diagnosis and prognosis challenging.

Observation:

  • This study presents three new cases of Desbuquois syndrome in two brothers and a sporadic male infant, all of whom died in early infancy.
  • A review of the literature identified an additional 10 fatal cases among 36 reported instances of the syndrome.

Findings:

  • The combined data reveal a high lethality rate of 33% for Desbuquois syndrome.
  • The majority of deaths occurred between birth and seven months of age, primarily due to respiratory complications.

Implications:

  • The findings underscore the critical and often fatal nature of Desbuquois syndrome, particularly in early infancy.
  • Close monitoring of neonatal and infant survivors is crucial, with a specific focus on respiratory status and pulmonary function.

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