Manzke Hermann, Lehmann Katarina, Klopocki Eva, Caliebe Almuth
Privat, Heikendorf, Germany.
Eur J Med Genet. 2008 Sep-Oct;51(5):452-65. doi: 10.1016/j.ejmg.2008.03.005. Epub 2008 Apr 11.
We report two new female patients with typical features of Catel-Manzke syndrome (MIM 302380) and the follow-up of the first patient affected by this syndrome. In addition to the Pierre Robin anomaly, the hallmark of this palatodigital syndrome is a bilateral hyperphalangy and clinodactyly of the index finger. Classified into four groups there are now (1) 23 reported cases of the typical, (2) six cases of the extended Catel-Manzke syndrome showing more than two accessory bones in the hand, (3) two patients showing unilateral hyperphalangy and clinodactyly of the index finger (4) two patients described with isolated features of the "Manzke dysostosis" without Pierre Robin anomaly. The karyotype of our three patients was normal. A search for submicroscopic chromosomal abnormalities by array CGH was performed. In addition, we sequenced candidate genes which are known to be involved in phalangeal development. However, no pathogenic aberrations or mutations were found.
我们报告了两名患有卡特-曼兹克综合征（MIM 302380）典型特征的新女性患者，并对首例受该综合征影响的患者进行了随访。除了皮埃尔·罗宾异常外，这种腭指综合征的标志是双侧多指畸形和食指尺侧偏斜。目前该综合征分为四组：（1）23例典型病例；（2）6例扩展型卡特-曼兹克综合征，手部有两个以上副骨；（3）2例患者表现为食指单侧多指畸形和尺侧偏斜；（4）2例患者表现为“曼兹克骨发育不全”的孤立特征，无皮埃尔·罗宾异常。我们三名患者的核型均正常。通过阵列比较基因组杂交（array CGH）寻找亚显微染色体异常。此外，我们对已知参与指骨发育的候选基因进行了测序。然而，未发现致病畸变或突变。
