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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
Summary
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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