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Marshall-Smith syndrome: the expanding phenotype

D K Williams1, D R Carlton, S H Green

  • 1Clinical Genetics Unit, Birmingham Maternity Hospital, Edgbaston, UK.

Journal of Medical Genetics
|November 14, 1997
PubMed

Insights

Early diagnosis and aggressive management of Marshall-Smith syndrome (MSS) can improve outcomes. This case highlights successful treatment of upper airway obstruction and failure to thrive in a young child with MSS.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Developmental Pediatrics

Background:

  • Marshall-Smith syndrome (MSS) is a rare genetic disorder.
  • Key features include distinctive facial characteristics, developmental delay, and advanced bone age.
  • Respiratory complications and failure to thrive are common challenges in MSS.

Observation:

  • A 3-year-9-month-old child diagnosed with MSS at 5 months was monitored for respiratory issues and growth.
  • Despite no life-threatening respiratory problems, significant upper airway obstruction was identified.
  • The patient experienced challenges with failure to thrive.

Findings:

  • Successful treatment of upper airway obstruction was achieved.
  • Aggressive nutritional management resulted in the patient maintaining weight at the 50th percentile.
  • The child, while exhibiting typical MSS features, did not develop severe respiratory distress.

Implications:

  • Early diagnosis of MSS is crucial for timely intervention.
  • Proactive management of respiratory and feeding difficulties can significantly enhance a child's prognosis.
  • This case underscores the importance of a multidisciplinary approach in managing rare genetic syndromes.

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