Bulging anterior fontanelle and dense bones in an infant.
作者信息
Halgren Camilla Raya, Lakhani Jenna, Colaiacovo Samantha, Prasad Chitra
机构信息
Department of Paediatrics, London Health Sciences Centre, Schulich School of Medicine and Dentistry, Western University, London, Ontario.
Department of Medical Genetics, London Health Sciences Centre, Schulich School of Medicine and Dentistry, Western University, London, Ontario.
出版信息
Paediatr Child Health. 2020 Mar;25(2):69-71. doi: 10.1093/pch/pxz004. Epub 2019 Mar 20.
Abstract
摘要
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Bulging anterior fontanelle and dense bones in an infant.婴儿前囟膨隆及骨骼致密。
Paediatr Child Health. 2020 Mar;25(2):69-71. doi: 10.1093/pch/pxz004. Epub 2019 Mar 20.
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Intracranial pressure measurement from the anterior fontanelle utilizing a pneumoelectronic switch.利用气动电子开关从前囟门测量颅内压。
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本文引用的文献
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Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group.成骨不全症的诊断与管理：成骨不全症工作组的共识指南。
J Clin Endocrinol Metab. 2017 Sep 1;102(9):3111-3123. doi: 10.1210/jc.2017-01127.
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The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.使用全外显子组测序诊断常染色体隐性遗传性恶性婴儿骨硬化症。
Clin Genet. 2017 Jul;92(1):80-85. doi: 10.1111/cge.12804. Epub 2016 Jun 2.
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Autosomal recessive osteopetrosis: diagnosis, management, and outcome.常染色体隐性遗传性骨硬化症：诊断、管理及预后
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