家族性婴儿皮质增生症
Familial infantile cortical hyperostosis.
作者信息
Emmery L, Timmermans J, Christens J, Fryns J P
出版信息
Eur J Pediatr. 1983 Oct;141(1):56-8. doi: 10.1007/BF00445672.
PMID:6357801
Abstract
Infantile cortical hyperostosis occurred in three generations of a family affecting eight different members. As confirmed in this family, Caffey disease is an autosomal dominant disorder of unknown etiology, with incomplete penetrance and variable expression.
摘要
婴儿骨皮质增生症出现在一个家族的三代人中，累及八名不同成员。正如该家族所证实的，卡菲病是一种病因不明的常染色体显性疾病，具有不完全外显率和可变表现型。
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Familial infantile cortical hyperostosis.家族性婴儿皮质增生症
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Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis).卡菲病（婴儿骨皮质增生症）的常染色体显性遗传且外显不全。
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The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease).COL1A1基因中的c.3040C>T突变在韩国患有婴儿皮质增生症（卡菲病）的患者中反复出现。
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Caffey's disease revisited. Further evidence for autosomal dominant inheritance with incomplete penetrance.再探婴儿骨皮质增生症。常染色体显性遗传伴不完全外显的进一步证据。
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Autosomal dominant inheritance of Caffey disease.卡菲病的常染色体显性遗传。
Birth Defects Orig Artic Ser. 1974;10(9):139-46.
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[Infantile cortical hyperostosis. Apropos of 8 cases].[婴儿皮质增生症。附8例报告]
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引用本文的文献
1
The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease).COL1A1基因中的c.3040C>T突变在韩国患有婴儿皮质增生症（卡菲病）的患者中反复出现。
J Hum Genet. 2008;53(10):947. doi: 10.1007/s10038-008-0328-5. Epub 2008 Aug 13.
本文引用的文献
1
Familial infantile cortical hyperostosis.家族性婴儿皮质增生症
J Pediatr. 1961 Oct;59:543-8. doi: 10.1016/s0022-3476(61)80238-2.
2
Infantile cortical hyperostosis: an inquiry into its familial aspects.婴儿皮质增生症：对其家族因素的探究。
Am J Roentgenol Radium Ther Nucl Med. 1961 Apr;85:613-32.
3
Hitherto undescribed characteristics of the pathology of infantile cortical hyperostosis (Caffey's disease).婴儿皮质增生症（卡菲病）病理学中迄今未被描述的特征。
Bull Johns Hopkins Hosp. 1957 Aug;101(2):80-99.
4
Idiopathic cortical hyperostosis.特发性皮质增生症
Clin Orthop Relat Res. 1982 Mar(163):210-3.
5
Caffey's disease revisited. Further evidence for autosomal dominant inheritance with incomplete penetrance.再探婴儿骨皮质增生症。常染色体显性遗传伴不完全外显的进一步证据。
Am J Dis Child. 1982 Jan;136(1):55-60.
6
Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis).卡菲病（婴儿骨皮质增生症）的常染色体显性遗传且外显不全。
Clin Genet. 1981 Apr;19(4):271-4. doi: 10.1111/j.1399-0004.1981.tb00708.x.
7
Case report 139. Infantile cortical hyperostosis (Caffey disease).病例报告139. 婴儿骨皮质增生症（卡菲病）。
Skeletal Radiol. 1981;6(1):77-80. doi: 10.1007/BF00347355.
8
Familial infantile cortical hyperostosis: an update.家族性婴儿皮质增生症：最新进展
AJR Am J Roentgenol. 1981 Jul;137(1):93-6. doi: 10.2214/ajr.137.1.93.
9
Late manifestations of infantile cortical hyperostosis (Caffey's disease).婴儿骨皮质增生症（卡菲氏病）的晚期表现
Br J Radiol. 1967 Feb;40(470):90-5. doi: 10.1259/0007-1285-40-470-90.
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Infantile cortical hyperostosis. Review of the literature and report of a case without mandibular involvement.婴儿皮质增生症。文献综述及1例无下颌骨受累病例报告。
Clin Orthop Relat Res. 1969 Jan-Feb;62:209-17.
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