Costello syndrome: the natural history of a true postnatal growth retardation syndrome

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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
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S Umans1, P Decock, J P Fryns

  • 1Center for Human Genetics, University of Leuven, Belgium.

Genetic Counseling (Geneva, Switzerland)
|January 1, 1995
PubMed

Insights

This case study details the 12-year natural history of Costello syndrome in a female child. It highlights key diagnostic signs and significant postnatal growth retardation.

Area of Science:

  • Pediatric Endocrinology
  • Clinical Genetics

Background:

  • Costello syndrome is a rare genetic disorder.
  • Characterized by distinctive facial features, developmental delays, and increased cancer risk.

Observation:

  • Presents the natural history of a female child with Costello syndrome from birth to 12 years.
  • Documents the progression of diagnostic clinical signs.
  • Illustrates significant postnatal growth retardation.

Findings:

  • Confirms the presence of characteristic Costello syndrome features.
  • Demonstrates the impact of the syndrome on growth trajectory.
  • Highlights the importance of early diagnosis and monitoring.

Implications:

  • Provides valuable insights into the long-term clinical course of Costello syndrome.
  • Informs clinical management strategies for affected children.
  • Contributes to understanding the phenotypic variability in Costello syndrome.

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