Burn-McKeown Syndrome

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1		Catherine Yang	+ 582 word(s)	582	2020-12-15 07:18:07

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Yang, C. Burn-McKeown Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5041 (accessed on 19 September 2026).

Yang C. Burn-McKeown Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5041. Accessed September 19, 2026.

Yang, Catherine. "Burn-McKeown Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5041 (accessed September 19, 2026).

Yang, C. (2020, December 24). Burn-McKeown Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5041

Yang, Catherine. "Burn-McKeown Syndrome." Encyclopedia. Web. 24 December, 2020.

Burn-McKeown Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/burn-mckeown-syndrome

Burn-McKeown syndrome is a disorder that is present from birth (congenital) and involves abnormalities of the nasal passages, characteristic facial features, hearing loss, heart abnormalities, and short stature.

genetic conditions

References

Burn J, McKeown C, Wagget J, Bray R, Goodship J. New dysmorphic syndrome with choanal atresia in siblings. Clin Dysmorphol. 1992 Jul;1(3):137-44.
Hing AV, Leblond C, Sze RW, Starr JR, Monks S, Parisi MA. A noveloculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessiveinheritance. Am J Med Genet A. 2006 Apr 15;140(8):804-12.
Lehalle D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amiel J,Gordon CT. A review of craniofacial disorders caused by spliceosomal defects.Clin Genet. 2015 Nov;88(5):405-15. doi: 10.1111/cge.12596.Review.
Toriello HV, Higgins JV. A boy with choanal atresia and cardiac defect:Burn-McKeown syndrome? Clin Dysmorphol. 1999 Apr;8(2):143-5.
Wieczorek D, Gillessen-Kaesbach G. Oculo-oto-facial dysplasia (OOFD) versusBurn-McKeown syndrome. Am J Med Genet A. 2006 Nov 1;140(21):2381-2; author reply 2383-4.
Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, BeetzC, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG,Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU,Mangold E, Steenpaß L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC,Waldenberger M, Böhmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, LüdeckeHJ, Strom TM. Compound heterozygosity of low-frequency promoter deletions andrare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. Am J Hum Genet. 2014 Dec 4;95(6):698-707. doi: 10.1016/j.ajhg.2014.10.014.
Wieczorek D, Teber OA, Lohmann D, Gillessen-Kaesbach G. Two brothers withBurn-McKeown syndrome. Clin Dysmorphol. 2003 Jul;12(3):171-4.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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