| 概要 |
Burn-McKeown syndrome (BMKS) is a rare autosomal-recessive malformative craniofacial disorder characterized by choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphisms, consisting of narrow palpebral fissures, coloboma of the lower eyelids, a prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears. All patients have normal intellectual development; Treacher Collins syndrome [DS: H00610] is therefore a possible differential diagnosis. Mutations in TXNL4A, encoding a protein of the major spliceosome, have been identified as the cause of BMKS.
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| 著者 |
Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, 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, Bohmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Ludecke HJ, Strom TM |
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