Marshall–Smith syndrome
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| Marshall-Smith syndrome | |
|---|---|
| Other names | Greig's syndrome, Polysyndactyly cephalopolysyndactyly syndrome, Accelerated skeletal maturation, Marshall-Smith type, Marshall–Smith–Weaver syndrome |
Marshall-Smith Syndrome, discovered in 1971 (Marshall, Graham, Scott, Boner, & Smith), is characterized by unusual accelerated skeletal maturation (usually starting before birth) and symptoms like conspicuous physical characteristics, respiratory difficulties, and mental retardation. Cases described in the literature show a clinical variability regarding related symptoms. For instance, respiratory difficulties are ranging from absent to severe difficulties.
Presentation
The syndrome is a rare clinical disorder.
- Physical
- Overgrowth
- Accelerated skeletal maturation
- Dysmorphic facial features
- Prominent eyes
- Bluish sclerae
- Coarse eyebrows
- Upturned nose
-
Radiologic examination
- Accelerated osseous maturation
- Phalangeal abnormalities
- Tubular thinning of the long bones
- Skull abnormalities
- Mental
- Often associated with intellectual disability (of variable degree)
Genotype
The first gene - NFIX - that could cause the syndrome has been identified. This gene is located on the short arm of chromosome 19 (19p13.1).
Diagnosis
- Clinical course
- Respiratory difficulties (like upper airway obstruction. (Note regarding clinical variability: respiratory difficulties might be absent.)
- Pneumonia
- Failure to thrive
- Psychomotor retardation
Respiratory complications are often cause of death in early infancy.
Differential diagnosis
Marshall–Smith syndrome is not to be confused with:
- Marshall syndrome
- Sotos (like) syndrome (Malan syndrome)
- Weaver-Smith syndrome (WSS)
Terminology
Translated
- English: Marshall–Smith syndrome
- Español: Síndrome de Marshall–Smith
- Français: Le syndrome de Marshall–Smith
- Italiano: Sindrome di Marshall–Smith
- Nederlands: Marshall–Smithsyndroom, syndroom van Marshall–Smith
- Polski: Zespół Marshalla–Smitha, Zespół Marshalla i Smitha
- Русский: Синдром Маршалла–Смита
Further reading
- Marshall RE, Graham CB, Scott CR, Smith DW (Jan 1971). "Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder". J. Pediatr. 78 (1): 95–101. doi:10.1016/S0022-3476(71)80269-X. PMID 4321601.
- Adam, M., Hennekam, R.C.M., Butler, M.G., Raf, M., Keppen, L., Bull, M., Clericuzio, C., Burke, L., Guttacher, A., Ormond, K., & Hoyme, H.E. (2002). Marshall–Smith syndrome: An osteochondrodysplasia with connective tissue abnormalities. 23rd Annual David W. Smith Workshop on Malformations and Morphogenesis, August 7, Clemson, SC.
- Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Guttmacher AE, Ormond KE and Hoyme HE: Marshall-Smith Syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. American Journal of Medical Genetics 137A:117–124, 2005.
- Antila H, Laitio T, Aantaa R, Silvoniemi P, Pakkanen A (1998). "Difficult airway in a patient with Marshall-Smith syndrome". Paediatr Anaesth. 8 (5): 429–32. doi:10.1046/j.1460-9592.1998.00763.x. PMID 9742541. S2CID 1342859..
- Shimura T, Utsumi Y, Fujikawa S, Nakamura H, Baba K (Jan 1979). "Marshall-Smith syndrome with large bifrontal diameter, broad distal femora, camptodactly, and without broad middle phalanges". J. Pediatr. 94 (1): 93–5. doi:10.1016/S0022-3476(79)80366-2. PMID 758435.
- Baldellou Vazquez A, Ruiz-Echarri Zelaya MP, Loris Pablo C, Ferr#{225}ndez Longas A, Tamparillas Salvador M. El sIndrome de Marshall-Smith: a prop#{243}sito de una observad#{243}n personal. An Esp Pediatr 1983; 18:45-50.
- Butler, M.G. (2003). Marshall–Smith syndrome. In: The NORD Guide to Rare Disorders. (pp219–220) Lippincott, Williams & Wilkins, Philadelphia, PA.
- Butler MG (Apr 2004). "Marshall-Smith syndrome: Follow-up report of a four and a half year old male". American Journal of Medical Genetics. 126A (3): 329–30. doi:10.1002/ajmg.a.20603. PMC 6816456. PMID 15054853.
- Charon A, Gillerot T, Van Maldergem L, Van Schaftingen MH, de Bont B, Koulischer L. The Marshall–Smith syndrome. Eur J Pediatr 1990; 150: 54–5.
- Cullen A, Clarke TA, O'Dwyer TP (Jun 1997). "The Marshall-Smith syndrome: a review of the laryngeal complications". Eur. J. Pediatr. 156 (6): 463–4. doi:10.1007/s004310050640. PMID 9208244. S2CID 1604784. Archived from the original on 2001-11-22. Retrieved 2008-12-08.
- Dernedde, G., Pendeville, P., Veyckemans, F., Verellen, G. & Gillerot, Y. (1998). Anaesthetic management of a child with Marshall–Smith syndrome. Canadian Journal of Anesthesia. 45 (7): 660. Anaesthetic management of a child with Marshall-Smith syndrome
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- Hou JW (2004). "Long-term follow-up of Marshall-Smith syndrome: report of one case". Acta Paediatr Taiwan. 45 (4): 232–5. PMID 15624371.
- Hoyme HE and Bull MJ: The Marshall-Smith Syndrome: Natural history beyond infancy. Western Society for Pediatric Research, Carmel, California, February, 1987. Clin Res 35:68A, 1987.
- Hoyme HE and Bull MJ: The Marshall-Smith Syndrome: Natural history beyond infancy. David W. Smith Morphogenesis and Malformations Workshop. Greenville, SC, August, 1987. Proceedings of the Greenwood Genetics Center 7:152, 1988.
- Hoyme HE, Byers PH, Guttmacher AE: Marshall–Smith syndrome: Further evidence of an osteochondrodysplasia in long-term survivors. David W. Smith Morphogenesis and Malformations Workshop, Winston-Salem, NC, August, 1992. Proceedings of the Greenwood Genetic Center 12:70, 1993.
- Johnson JP, Carey JC, Glassy FJ, Paglieroni T, Lipson MH (Feb 1983). "Marshall-Smith syndrome: two case reports and a review of pulmonary manifestations". Pediatrics. 71 (2): 219–23. doi:10.1542/peds.71.2.219. PMID 6823423. S2CID 45010869.
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