Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II)

Ali Al Kaissi; Renata Pospischill; Franz Grill; Rudolf Ganger

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Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II)

机译：莫尔氏综合症男孩（Oro-Facecial-Digital Type II）男孩-CGH上没有微缺失或微重复的独特骨骼异常

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We describe a constellation of distinctive skeletal abnormalities in an 8-year-old boy who presented with the full clinical criteria of oro-facial-digital (OFD) type II (Mohr syndrome): bony changes of obtuse mandibular angle, bimanual hexadactyly and unilateral synostosis of the metacarpo-phalanges of 3-4, bilateral coxa valga associated with moderate hip subluxation, over-tubulation of the long bones, vertical talus of the left foot and talipes equinovarus of the right foot respectively. Interestingly, we encountered variable minor malformations in his parents, confirming the autosomal recessive pattern of inheritance. There were no microdeletions or microduplications after performing array-CGH-analysis. We report what might be a constellation of unreported skeletal abnormalities in a child with OFD type II (Mohr syndrome).J Clin Med Res. 2015;7(12):1002-1006doi: http://dx.doi.org/10.14740/jocmr2341w

机译：我们描述了一个八岁男孩的独特骨骼异常的星座，该男孩表现出口-面部数字（OFD）II型（Mohr综合征）的完整临床标准：钝性下颌角骨质改变，双手六指畸形和单侧3-4掌指骨滑膜增生，双侧髋关节中度半脱位，长骨过度管结，左足垂直距骨和右足距骨等距。有趣的是，我们在他的父母中遇到了各种轻微的畸形，证实了遗传的常染色体隐性模式。进行阵列CGH分析后，没有微缺失或微重复。我们报告了可能是未报告的II型OFD（Mohr综合征）儿童骨骼异常的星座。 2015; 7（12）：1002-1006doi：http：//dx.doi.org/10.14740/jocmr2341w

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《Journal of Clinical Medicine Research》 |2015年第12期|共5页
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Ali Al Kaissi; Renata Pospischill; Franz Grill; Rudolf Ganger;
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1. Mohr-Claussen syndrome or oro-facial-digital syndrome (OFDS) type-II. [J] . A Rhouma, G Horneff Klinische Paediatrie . 2014,第2期

机译：Mohr-Claussen综合征或II型口面部数字综合征（OFDS）。
2. Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome. [J] . Schoumans J, Nordgren A, Ruivenkamp C, European journal of human genetics: EJHG . 2005,第2期

机译：使用阵列CGH进行全基因组筛查未发现Kabuki综合征儿童的微缺失/微重复。
3. A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients. [J] . Kiholm Lund AB, Hove HD, Kirchhoff M European journal of medical genetics . 2008,第6期

机译：一个15q24微复制，与最近描述的15q24微缺失相对应，是与15q24微缺失综合症患者共享临床特征的男孩。
4. An intelligent web-based system for the detection and visualization of biomarkers in Microdeletion and Microduplication Syndromes [C] . Konstantinos Stefanou, Christos Bellos, Georgios Stergios, IEEE International Conference on Bioinformatics and Bioengineering . 2020

机译：基于智能网络的系统，用于检测和可视化微缺失和微杂皮综合征中的生物标志物
5. Faculty engagement in Boyer's four domains of scholarship by institutional type and by academic discipline at Baccalaureate I and II colleges and universities. [D] . Luckey, William Thomas, Jr. 2001

机译：在第一和第二学士学位学院和大学中，按机构类型和学科划分，教师参与博耶的四个奖学金领域。
6. Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II) [O] . Ali Al Kaissi, Renata Pospischill, Franz Grill, 2015

机译：莫尔氏综合症男孩（Oro-Facial-Digital Type II）男孩-CGH上无微缺失或微重复的独特骨骼异常
7. Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome [O] . Jacqueline Schoumans, Ann Nordgren, Claudia Ruivenkamp, 2004

机译：使用Array-CGH的基因组筛选不会揭示kabuki综合征的儿童的微泌录/微塑料

Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II)

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