Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Sharma R, Murphy A, et al. Coffin-Lowry syndrome. Reference article, Radiopaedia.org (Accessed on 20 Feb 2025) https://doi.org/10.53347/rID-13332
Coffin-Lowry syndrome (CLS) is a rare X-linked genetic syndrome affecting multiple body parts.
The condition tends to affect males much more due to its X-linked inheritance. The estimated incidence is at around 1:40,000-50,000.
It is characterized by a number of clinical features which include:
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central nervous system
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craniofacial anomalies 3
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skeletal anomalies
Genetics
It is caused by mutations in the RPS6KA3 gene located at Xp22.2. A majority of cases are thought to arise from de novo mutations.
History and etymology
It is named after the American pediatrician Grange S Coffin who described it in 1966 and Irish-Canadian physician Robert Brian Lowry who described in 1971 4,5.
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1. Lange IR, Stone P, Aftimos S. The Coffin-Lowry syndrome: a case report and review of the literature. J Obstet Gynaecol Can. 2010;32 (7): 691-4. - Pubmed citation
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2. Pereira PM, Schneider A, Pannetier S et-al. Coffin-Lowry syndrome. Eur. J. Hum. Genet. 2010;18 (6): 627-33. doi:10.1038/ejhg.2009.189 - Free text at pubmed - Pubmed citation
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3. Hanauer A, Young ID. Coffin-Lowry syndrome: clinical and molecular features. J. Med. Genet. 2002;39 (10): 705-13. J. Med. Genet. (link) - Free text at pubmed - Pubmed citation
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4. William Alexander Newman Dorland. Dorland's Illustrated Medical Dictionary. (2018) ISBN: 9781416023647
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5. Lowry B, Miller JR, Fraser FC. A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus. Am. J. Dis. Child. 1971;121 (6): 496-500. - Pubmed citation
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