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Marshall-Smith syndrome: further delineation
C C Yoder1, T Wiswell, J D Cornish
1Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, Tex.
Insights
Marshall-Smith syndrome is a rare condition causing rapid bone aging and infant death. Early airway evaluation and multidisciplinary therapy may improve outcomes and aid research.
Area of Science:
- Pediatric genetics
- Rare disease research
- Clinical case reporting
Background:
- Marshall-Smith syndrome (MSS) is a severe genetic disorder.
- Characterized by accelerated bone maturation, dysmorphic features, respiratory compromise, failure to thrive, neurodevelopmental abnormalities, and early infant death.
- Prognosis has historically been poor.
Abstract:
We have reported a case of the Marshall-Smith syndrome, a condition characterized by accelerated bone maturation, dysmorphic features, respiratory compromise, failure to thrive, neuro-developmental abnormalities, and death in early infancy. Early evaluation of upper airway obstruction in these children may be important in prolonging life. Although the prognosis has been poor to date, early recognition and aggressive multi-disciplinary therapy may permit further investigation into the cause and appropriate management of this disorder.