POSTAXIAL ACROFACIAL DYSOSTOSIS (MILLER) SYNDROME
POSTAXIAL ACROFACIAL DYSOSTOSIS (MILLER) SYNDROME
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DOI：
10.1136/jmg.24.7.422
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发表时间：
1987-07-01
影响因子：
4
通讯作者：
WINTER, RM
中科院分区：
文献类型：
--
作者：
DONNAI, D;HUGHES, HE;WINTER, RM
1969年，Genee报道了一名男婴，患有后肢缺陷、杯状耳朵和颧骨发育不全，并注意到面部特征与Treacher-Collins综合征的相似之处。Miller等A12介绍了三个类似的无血缘关系的患者的详细情况(1个以前报告过3)，并回顾了另外两个病例4 5以及Genee的病例。Fineman简要报告了Miller等A12病例中一个受影响的同胞。6本综述基于这七个已发表的病例和三个个人观察到的、以前未报告的病例(表)。Wiedemann等人7说明了本综述分析中未包括的另一个病例。
Genee, in 1969,'reported a male infant with postaxial limb deficiency, cup shaped ears, and malar hypoplasia and noted the similarity of the facial features to those seen in Treacher-Collins syndrome. Miller et a12 presented details of three similar unrelated patients (one previously reported3) and reviewed two other cases4 5 as well as Genee's case. An affected sib of one of the cases of Miller et a12 was briefly reported by Fineman. 6 Thisreview is based on these seven published cases and three personally observed, previously unreported cases (table). A further case not included in the analysis for this review is illustrated by Wiedemann et al. 7