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Costello syndrome: clinical diagnosis in the first year of life

M Cristina Digilio1, Anna Sarkozy, Rossella Capolino

  • 1Medical Genetics, Pediatric Cardiology, Bronchopneumology, Bambino Gesù Hospital, Rome, Italy. digilio@opbg.net

European Journal of Pediatrics
|August 30, 2007
PubMed

Insights

Early recognition of Costello syndrome (CS) is possible through specific clinical signs in infants. Genetic testing of the HRAS gene confirms diagnosis, aiding differentiation from similar conditions.

Area of Science:

  • Genetics
  • Pediatrics
  • Clinical Medicine

Background:

  • Costello syndrome (CS) shares phenotypic overlap with Noonan syndrome (NS) and cardiofaciocutaneous syndrome (CFCS), complicating early diagnosis, especially in neonates.
  • Early identification of CS is crucial for timely management and genetic counseling.

Observation:

  • Three pediatric patients diagnosed with CS within the first year of life were studied.
  • Key diagnostic features observed include fetal/neonatal macrosomia, feeding difficulties, developmental delay, coarse facial features, gingival hyperplasia, skeletal anomalies (osteoporosis, metaphyseal enlargement), hypertrophic cardiomyopathy (HCM), and atrial arrhythmias.

Findings:

  • Specific clinical manifestations in infancy facilitate the early recognition of Costello syndrome.
  • Molecular screening of the HRAS gene is recommended for confirming suspected CS cases.
  • The identified features aid in distinguishing CS from phenotypically similar RAS/MAPK pathway disorders.

Implications:

  • This study provides a clinical guide for early Costello syndrome diagnosis in infants.
  • Prompt HRAS gene testing can expedite diagnosis and differentiate CS from related syndromes.
  • Understanding these early signs improves patient outcomes through earlier intervention and genetic confirmation.

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