Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Murphy A, Bell D, et al. Marshall-Smith syndrome. Reference article, Radiopaedia.org (Accessed on 14 Dec 2024) https://doi.org/10.53347/rID-15592
Marshall-Smith syndrome (MSS) is a rare genetic syndrome primarily comprising the triad of facial dysmorphism, failure to thrive and accelerated osseous maturation 5. Many cases, however, have a wider clinical spectrum.
- general
- skeletal
- craniofacial
- intellectual disability
- respiratory difficulties
Genetics
Treatment and prognosis
Most cases with Marshall-Smith syndrome do not survive past early infancy, with death often occurring by three years of age, largely due to severe respiratory complications and infections that may result from them.
History and etymology
It was initially described by R E Marhsall and D W Smith et al. in 1971 2.
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1. Eich GF, Silver MM, Weksberg R et-al. Marshall-Smith syndrome: new radiographic, clinical, and pathologic observations. Radiology. 1991;181 (1): 183-8. Radiology (abstract) - Pubmed citation
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2. Marshall RE, Graham CB, Scott CR et-al. Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder. J. Pediatr. 1971;78 (1): 95-101. - Pubmed citation
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3. Hassan M, Sutton T, Mage K et-al. The syndrome of accelerated bone maturation in the newborn infant with dysmorphism and congenital malformations. (The so-called Marshall-Smith syndrome). Pediatr Radiol. 1976;5 (1): 53-7. - Pubmed citation
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4. Yoder CC, Wiswell T, Cornish JD et-al. Marshall-Smith syndrome: further delineation. South. Med. J. 1988;81 (10): 1297-300. South. Med. J. (link) - Pubmed citation
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5. Cullen A, Clarke TA, O'dwyer TP. The Marshall-Smith syndrome: a review of the laryngeal complications. Eur. J. Pediatr. 1997;156 (6): 463-4. Eur. J. Pediatr. (link) - Pubmed citation
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6. Summers DA, Cooper HA, Butler MG. Marshall-Smith syndrome: case report of a newborn male and review of the literature. Clin. Dysmorphol. 1999;8 (3): 207-10. - Pubmed citation
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7. Chatel C, Maazoul F, Sigaudy S et-al. Neonatal death in Marshall-Smith syndrome. Genet. Couns. 1998;9 (1): 15-8. - Pubmed citation
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