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Cell-based Assay Protocol for the Prognostic Prediction of Idiopathic Scoliosis Using Cellular Dielectric Spectroscopy
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Early postnatal diagnosis of Costello syndrome

S Kargl1, M Meissl2, W Pumberger1

  • 1Department of Pediatric Surgery, Women's and Children's Hospital Linz, Linz, Austria.

Klinische Padiatrie
|July 26, 2014
PubMed

Insights

Costello syndrome, a rare congenital disorder, presents with distinct features and developmental delays. Early diagnosis via fetal indicators aids in managing infant therapeutic challenges.

Area of Science:

  • Genetics and Developmental Biology
  • Pediatric Medicine
  • Clinical Case Studies

Background:

  • Costello syndrome is a rare genetic disorder characterized by craniofacial abnormalities, musculoskeletal issues, skin lesions, heart defects, and increased cancer risk.
  • Affected individuals often experience significant feeding difficulties and developmental delays during early childhood.

Purpose of the Study:

  • To present a case of Costello syndrome diagnosed prenatally.
  • To highlight the diagnostic challenges and therapeutic management issues in infants with Costello syndrome.

Main Methods:

  • Case report of a patient diagnosed with Costello syndrome.
  • Review of clinical presentation, fetal indicators, and postnatal management.

Main Results:

  • Prenatal diagnosis was achieved through fetal tachycardia, polyhydramnios, and characteristic physical findings.
  • The case illustrates the complexities in managing infants with Costello syndrome.

Conclusions:

  • Early identification of Costello syndrome, even prenatally, is crucial for timely intervention.
  • Effective therapeutic management requires addressing the multifaceted challenges associated with this syndrome.

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