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1
Syndrome for diagnosis: dwarfing, persistently open fontanelle; recurrent meningitis; recurrent subdural effusions with temporary alternate-sided hemiplegia; high-tone deafness; visual defect with pseudopapilloedema; slowing intellectual development; recurrent acute polyarthritis; erythema marginatum, splenomegaly and iron-resistant hypochromic anaemia.诊断综合征：身材矮小、囟门持续开放；复发性脑膜炎；复发性硬膜下积液伴交替性偏瘫；高音调耳聋；伴有假性视乳头水肿的视觉缺陷；智力发育迟缓；复发性急性多关节炎；边缘性红斑、脾肿大和铁抵抗性低色素性贫血。
Proc R Soc Med. 1973 Nov;66(11):1070-1. doi: 10.1177/003591577306601104.
2
Geophagia associated with iron-deficiency anemia, hepatosplenomegaly, hypogonadism and dwarfism. A syndrome probably associated with zinc deficiency.与缺铁性贫血、肝脾肿大、性腺功能减退和侏儒症相关的异食癖。一种可能与锌缺乏有关的综合征。
Clin Pediatr (Phila). 1969 Nov;8(11):661-8. doi: 10.1177/000992286900801113.
3
Letter: Iron deficiency and thrombocytosis.信件：缺铁与血小板增多症。
Arch Intern Med. 1974 Jun;133(6):1070-1. doi: 10.1001/archinte.133.6.1070.
4
[Syndrome associating anemia, hepatomegaly, dwarfism, late puberty and geophagia. Geophagia syndrome].
Ann Pediatr (Paris). 1970 Mar 2;17(3):214-9.
5
On the pathogenesis of the hepatosplenomegaly in chronic iron deficiency anaemia. Astudy in five patients with a syndrome of chronic iron deficiency anaemia, hepatosyplenomegaly, hypogonadism and dwarfism.关于慢性缺铁性贫血中肝脾肿大的发病机制。对五例患有慢性缺铁性贫血、肝脾肿大、性腺功能减退和侏儒症综合征患者的研究。
Acta Hepatosplenol. 1968 Jul-Aug;15(4):241-51.
6
Leukocyte alkaline phosphatase in iron deficiency.
Acta Haematol. 1970;44(6):327-31. doi: 10.1159/000208700.
7
[Sonographic detection of post-meningitis subdural effusion].
Padiatr Padol. 1983;18(3):301-11.
8
Syndrome of iron deficiency anemia, hepatosplenomegaly, hypogonadism, dwarfism and geophagia.缺铁性贫血、肝脾肿大、性腺功能减退、侏儒症和异食癖综合征。
Trans Am Clin Climatol Assoc. 1960;72:130-49.
9
Iron deficiency anemia, papilledema, thrombocytosis, and transient hemiparesis.缺铁性贫血、视乳头水肿、血小板增多症和短暂性偏瘫。
Arch Intern Med. 1972 Mar;129(3):483-6.
10
Clinical and experimental. Zinc metabolism in patients with the syndrome of iron deficiency anemia, hepatosplenomegaly, dwarfism, and hypogonadism. 1963.临床与实验。缺铁性贫血、肝脾肿大、侏儒症和性腺功能减退综合征患者的锌代谢。1963年。
J Lab Clin Med. 1990 Nov;116(5):737-49.

引用本文的文献

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The role of the stria vascularis in neglected otologic disease.血管纹在被忽视的耳科学疾病中的作用。
Hear Res. 2023 Feb;428:108682. doi: 10.1016/j.heares.2022.108682. Epub 2022 Dec 24.
2
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.单基因自身炎症综合征：遗传、临床及治疗问题的最新进展
Int J Rheumatol. 2013;2013:513782. doi: 10.1155/2013/513782. Epub 2013 Oct 24.
3
Cryopyrin-associated periodic syndrome: an update on diagnosis and treatment response.Cryopyrin 相关周期性综合征：诊断和治疗反应的最新进展。
Curr Allergy Asthma Rep. 2011 Feb;11(1):12-20. doi: 10.1007/s11882-010-0160-9.
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Long term management of patients with cryopyrin-associated periodic syndromes (CAPS): focus on rilonacept (IL-1 Trap).冷吡啉相关周期性综合征（CAPS）患者的长期管理：聚焦于rilonacept（IL-1 Trap）。
Biologics. 2008 Dec;2(4):733-42. doi: 10.2147/btt.s3167.
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Extreme efficiency of anti-interleukin 1 agent (anakinra) in a Japanese case of CINCA syndrome.
Clin Rheumatol. 2008 Feb;27(2):277-9. doi: 10.1007/s10067-007-0734-7. Epub 2007 Sep 22.
6
Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA).新生儿起病多系统炎症性疾病（NOMID/CINCA）的关节病
Pediatr Radiol. 2007 Feb;37(2):145-52. doi: 10.1007/s00247-006-0358-0. Epub 2006 Nov 28.
7
Infantile multisystem inflammatory disease: another case of a new syndrome.小儿多系统炎症性疾病：一种新综合征的又一病例。
Eur J Pediatr. 1986 Apr;144(6):593-6. doi: 10.1007/BF00496045.
8
NOMID--a neonatal syndrome of multisystem inflammation.
Skeletal Radiol. 1989;18(5):359-64. doi: 10.1007/BF00361425.
9
An infant with chronic articular and cutaneous manifestations: a new syndrome?一名患有慢性关节和皮肤表现的婴儿：一种新综合征？
J R Soc Med. 1989 Apr;82(4):223-5. doi: 10.1177/014107688908200414.

Syndrome for diagnosis: dwarfing, persistently open fontanelle; recurrent meningitis; recurrent subdural effusions with temporary alternate-sided hemiplegia; high-tone deafness; visual defect with pseudopapilloedema; slowing intellectual development; recurrent acute polyarthritis; erythema marginatum, splenomegaly and iron-resistant hypochromic anaemia.

作者信息

Lorber J

出版信息

Proc R Soc Med. 1973 Nov;66(11):1070-1. doi: 10.1177/003591577306601104.

DOI:10.1177/003591577306601104
PMID:4777015
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1645171/
Abstract
摘要