Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: Exploring the phenotype

AgarwalV.; MukherjeeS.B.; GulatiP.; AnejaS.

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Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: Exploring the phenotype

机译：大头畸形，大call体综合症和完全缺乏运动发育综合症：探索表型

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The syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development (MMC) comprises progressive macrocephaly, marked psycho-motor delay, mega corpus callosum (CC), and distinctive facies with frontal bossing, depressed nasal bridge, and long palpebral fissures (Gohlich-Ratmann et al., 1998). Since the first case report in 1998, very few cases have been published. We report the ninth patient with a hitherto unreported MRI finding of medially rotated hippocampi and make a phenotypic comparison with all previously reported cases.

机译：巨头畸形，巨型call体和完全缺乏运动发育（MMC）的综合症包括进行性大头畸形，明显的心理运动延迟，巨型call体（CC），以及具有前突，鼻梁凹陷和长睑裂的独特相。（Gohlich-Ratmann等，1998）。自1998年第一例病例报告以来，几乎没有病例发表。我们报告了迄今尚未报道的中枢旋转海马体MRI的第九例患者，并与所有先前报道的病例进行了表型比较。

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《Clinical dysmorphology》 |2013年第4期|共5页
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AgarwalV.; MukherjeeS.B.; GulatiP.; AnejaS.;
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1. Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: Exploring the phenotype [J] . AgarwalV., MukherjeeS.B., GulatiP., Clinical dysmorphology . 2013,第4期

机译：大头畸形，大call体综合症和完全缺乏运动发育综合症：探索表型
2. Megalencephaly, mega corpus callosum, and complete lack of motor development: delineation of a rare syndrome. [J] . Hengst M, Tucke J, Zerres K, American journal of medical genetics, Part A . 2010,第9期

机译：巨头畸形，大型体和完全缺乏运动发育：一种罕见综合征的描述。
3. A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development. [J] . Dagli AI, Stalker HJ, Williams CA American journal of medical genetics, Part A . 2008,第2期

机译：患有巨头畸形，巨型体综合征且完全缺乏运动发育的患者。
4. Robust Automatic Corpus Callosum Analysis Toolkit: Mapping callosal development across heterogeneous multisite data [C] . Alyssa H. Zhu, Arvin Saremi, Armand Amini, International Symposium on Medical Information Processing and Analysis . 2019

机译：强大的自动语料库CalloSum分析工具包：跨异构多路数据映射调用开发
5. Analysis of Content Scales of the Minnesota Multiphasic Personality Inventory-2 in Complete and Partial Agenesis of the Corpus Callosum. [D] . Longino, Sarah M. 2011

机译：明尼苏达州多相人格量表2在Call体完全和部分发育不全中的内容量表分析。
6. A nonsense variant in HERC1 is associated with intellectual disability megalencephaly thick corpus callosum and cerebellar atrophy [O] . Lam Son Nguyen, Taiane Schneider, Marlène Rio, 2016

机译：HERC1的无意义变异与智力障碍巨头畸形thick体厚和小脑萎缩有关
7. Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations [O] . Ratna Tripathy, Ines Leca, Tessa van Dijk, 2018

机译：Mast1中的突变导致兆 - 睾丸癌症综合征，具有小脑发育不全和皮质畸形

Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: Exploring the phenotype

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