A provisionally unique syndrome of macrosomia, bone overgrowth, macrocephaly, and tall stature.

Sadeghi Nejad A; Karlin LI

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A provisionally unique syndrome of macrosomia, bone overgrowth, macrocephaly, and tall stature.

机译：巨人症，骨骼过度生长，大头畸形和高大身材的临时独特综合征。

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We report a young man with intrauterine macrosomia, macrocephaly, and bony abnormalities. Excessive growth continued throughout infancy and childhood. Bone age was advanced. He developed contractures of the large joints and was confined to a wheelchair. Extensive laboratory studies, repeated on multiple occasions were all normal. Intellectually, he was normal. His near final height was 234 cm. The constellation of findings in this patient is at variance with previously described syndromes of tall stature. We postulate that excessive size and bone overgrowth in this young man is caused by a receptor/post-receptor abnormality involving a growth on/off mechanism at the cellular level.

机译：我们报告了一名年轻人，他的子宫内巨人症，巨头畸形和骨异常。在婴儿期和儿童期，过度生长仍在继续。骨龄已高。他发展为大关节挛缩，并被限制在轮椅上。广泛的实验室研究，多次重复均正常。从理智上讲，他很正常。他的最终身高接近234厘米。该患者的发现星座与先前描述的身材高大的综合征有所不同。我们假设这个年轻人的大小过多和骨骼过度生长是由受体/受体后异常引起的，涉及细胞水平的开/关机制。

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《American journal of medical genetics, Part A》 |2005年第4期|共4页
作者
Sadeghi Nejad A; Karlin LI;
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正文语种 eng
中图分类医学遗传学;
关键词
Abnormalities; Multiple; Bone and Bones; Craniofacial Abnormalities; Fetal Macrosomia; 畸形; 多发性; 骨和骨组织; 颅面骨畸形; 巨大胎儿; 生长障碍;

机译：Abnormalities;Multiple;Bone and Bones;Craniofacial Abnormalities;Fetal Macrosomia;畸形;多发性;骨和骨组织;颅面骨畸形;巨大胎儿;生长障碍;

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1. A provisionally unique syndrome of macrosomia, bone overgrowth, macrocephaly, and tall stature. [J] . Sadeghi Nejad A, Karlin LI American journal of medical genetics, Part A . 2005,第4期

机译：巨人症，骨骼过度生长，大头畸形和高大身材的临时独特综合征。
2. A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome. [J] . Phi Yen Vu, Jér?me Toutain, David Cappellen, American journal of medical genetics, Part A . 2012,第11期

机译：纯合平衡的相互易位提示LINC00237作为MOMO（宏观，肥胖，大头畸形和眼部异常）综合征的候选基因。
3. PIK3CB CAUSES A NOVEL NEURODEVELOPMENTAL AND OVERGROWTH SYNDROME CHARACTERIZED BY MACROCEPHALY AND POLYMICROGYRIA [J] . Bhola P. T., Kernohan K. D., McBride A., American journal of medical genetics, Part A . 2019,第4期

机译：Pik3CB引起了一种新的神经发育和过度生长综合征，其特征是甲状阳畸形和多发性胚胎
4. Content-based Image Retrieval on Radiographs of Bone Dysplasia Syndromes [C] . Ian BRADFORD, Robin WINTER, Carl EVANS World Multiconference on Systemics, Cybernetics and Informatics(SCI 2002) v.9: Image, Acoustic, Speech and Signal Processing II; 20020714-20020718; Orlando,FL; US . 2002

机译：骨发育异常综合征的影像学检查中基于内容的图像检索
5. Large offspring syndrome, a bovine model for the human loss-of-imprinting overgrowth syndrome Beckwith-Wiedemann. [D] . Chen, Zhiyuan. 2013

机译：大型后代综合症，人类无印记的过度生长综合症Beckwith-Wiedemann的牛模型。
6. Metacarpal index in Marfans syndrome and in constitutional tall stature. [O] . M Nelle, J Tröger, G Rupprath, 1994

机译：马凡氏综合症和体格高大的身材的掌骨指数。
7. A homozygous balanced reciprocal translocation suggestsLINC00237as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome [O] . Phi Yen Vu, Jérôme Toutain, David Cappellen, 2012

机译：纯合的平衡互惠易位表明LINC00237A候选基因的MOMO（麦克马瘤，肥胖，大型症和眼异常）综合征

A provisionally unique syndrome of macrosomia, bone overgrowth, macrocephaly, and tall stature.

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