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[Russel-Silver syndrome].

A Martínez Nogueiras1, M Teixeira Costeira, H Saraiva Moreira

  • 1Servicio de Pediatría. Hospital de São Marcos. Braga. Portugal. henedina@mail.telepac.pt

Anales Espanoles De Pediatria
|June 20, 2001
PubMed
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Russel-Silver syndrome (RSS) is a growth disorder. This case highlights a male infant diagnosed with RSS despite normal birth size, emphasizing unique limb asymmetry and postnatal growth deficiency.

Area of Science:

  • Genetics and Developmental Biology
  • Pediatric Endocrinology

Background:

  • Russel-Silver syndrome (RSS) is a rare genetic disorder characterized by intrauterine and postnatal growth retardation, dysmorphic facial features, and limb asymmetry.
  • Diagnosis typically relies on a constellation of clinical findings, though genetic confirmation can be challenging.

Observation:

  • A 9-month-old male presented with features suggestive of RSS, including a disproportionately large head, small triangular face, blue sclerae, and limb asymmetry.
  • Notably, the infant exhibited normal intrauterine growth, contrasting with the typical presentation of severe growth restriction from birth.

Findings:

  • The patient displayed postnatal growth deficiency (weight and height at the 5th percentile) with normal head circumference growth (90th percentile).
  • Key diagnostic features included crossed limb asymmetry (right leg undergrowth, left arm undergrowth) and characteristic facial anomalies.

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  • Psychomotor development was age-appropriate, assessed using the Sheridan Scale.

    • Implications:

    • This case underscores the phenotypic variability of Russel-Silver syndrome, particularly the presence of normal intrauterine growth.
    • Highlights the importance of recognizing specific clinical markers like crossed limb asymmetry in diagnosing RSS.
    • Contributes to a better understanding of RSS diagnostic criteria and clinical management in pediatric cases.