Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate
Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate
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DOI：
10.1002/ajmg.a.31760
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发表时间：
2007-06-01
影响因子：
2
通讯作者：
Marazita, Mary L.
中科院分区：
文献类型：
--
作者：
Neiswanger, Katherine;Weinberg, Seth M.;Marazita, Mary L.
非综合征性唇腭裂是一种复杂的疾病，具有广泛的表型谱;隐性缺陷的上级口轮匝肌可能是最温和的亚临床形式的嘴唇部分的表型。本研究使用高分辨率超声检查比较了525名非综合征性唇腭裂患者的正常亲属和257名正常对照者的OO肌不连续的频率。在54例（10.3%）非唇裂亲属中观察到OO肌肉不连续，而对照组为15例（5.8%）-统计学显著增加（P = 0.04）。男性亲属的不连续率显著高于男性对照组（12.0% vs. 3.2%; P=0.01）;女性亲属的不连续率也高于女性对照组，但增加不具有统计学意义（8.9% vs. 7.4%; P=0.56）。这些数据证实了上皮下肌肉缺损是唇裂表型的轻度表现的假设。上皮下OO肌肉缺陷的识别可能是重要的，在临床环境中，作为一种手段，提供更准确的复发风险估计的亲属在裂缝的家庭。此外，唇腭裂表型谱的扩大应提高遗传研究的力量。(C)2007 Wiley-Liss，Inc.
Nonsyndromic cleft lip cleft palate is a complex disease with a wide phenotypic spectrum; occult defects of the superior orbicularis oris muscle may represent the mildest subclinical form of the lip portion of the phenotype. This study used high-resollition ultrasonography to compare the frequency of discontinuities in the OO muscle in 525 unaffected relatives of individuals With nonsyndromic cleft lip cleft palate versus 257 unaffected controls. OO muscle discontinuities were observed in 54 (10.3%) of the noncleft relatives, compared to 15 (5.8%) of the controls - a statistically significant increase (P = 0.04). Male relatives had a significantly higher rate of discontinuities than male controls (12.0% vs. 3.2%; P=0.01); female relatives also had a higher rate of discontinuities than female controls, but the increase was not statistically significant (8.9% vs. 7.4%; P=0.56). These data confirm the hypothesis that subepithelial 00 muscle defects are a mild manifestation of the cleft lip phenotype. Identification of subepithelial OO muscle defects may be important in a clinical setting, as a means of providing more accurate recurrence risk estimates to relatives in cleft families. Furthermore, the expansion of the cleft lip cleft palate phenotypic spectrum should improve the power of genetic studies. (C) 2007 Wiley-Liss, Inc.