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Marshall syndrome — Clinical Guidelines

Overview

Marshall-Smith syndrome is a rare congenital disorder characterized by advanced bone age, failure to thrive, distinctive facial features, and often respiratory complications. Neurodevelopmental abnormalities may also be present 1 2 6.

Diagnosis

Key Diagnostic Criteria: Advanced bone age, failure to thrive, dysmorphic facial features 1 2 5.

Recommended Tests:

- Radiographic assessment for accelerated bone maturation 1 5. - Neurodevelopmental evaluation to assess cognitive and motor function 2 6. - Laryngoscopy to evaluate for laryngeal hypoplasia or other airway anomalies 3.

Grading: Clinical diagnosis based on clinical features; genetic testing may be considered for further characterization 4.

Management

First-Line Treatments:

- Nutritional support and management of failure to thrive 1 2. - Respiratory support, including monitoring and intervention for airway obstruction 3 6.

Adjunctive Treatments:

- Multidisciplinary care involving pediatricians, pulmonologists, and geneticists 6. - Early intervention programs for neurodevelopmental delays 2.

Specific Drug Classes/Doses: Not specified in the abstracts.

Special Populations

Pediatrics: Early recognition and aggressive multidisciplinary therapy are crucial for managing respiratory and developmental issues 3 6.

Comorbidities: Presence of septo-optic dysplasia and cerebellar hypoplasia should be evaluated and managed accordingly 1 2.

Key Recommendations

Exclude severe airway obstruction in dysmorphic infants presenting with respiratory distress through rapid airway assessment and intervention 3 (Evidence: Strong).

Implement multidisciplinary care involving specialists in pediatrics, pulmonology, and genetics for comprehensive management 6 (Evidence: Moderate).

Early nutritional support and developmental assessments are essential to address failure to thrive and neurodevelopmental abnormalities 1 2 (Evidence: Moderate).

References

1 Travan L, Oretti C, Zennaro F, Demarini S. Marshall-Smith syndrome and septo-optic dysplasia: an unreported association. American journal of medical genetics. Part A 2008. link 2 Summers DA, Cooper HA, Butler MG. Marshall-Smith syndrome: case report of a newborn male and review of the literature. Clinical dysmorphology 1999. link 3 Cullen A, Clarke TA, O'Dwyer TP. The Marshall-Smith syndrome: a review of the laryngeal complications. European journal of pediatrics 1997. link 4 Stratton RF, Lee B, Ramirez F. Marshall syndrome. American journal of medical genetics 1991. link 5 Charon A, Gillerot Y, Van Maldergem L, Van Schaftingen MH, de Bont B, Koulischer L. The Marshall-Smith syndrome. European journal of pediatrics 1990. link 6 Yoder CC, Wiswell T, Cornish JD, Cunningham BE, Crumbaker DH. Marshall-Smith syndrome: further delineation. Southern medical journal 1988. link

Marshall syndrome