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致密性骨发育不全。一种伴有内脏表现的变异型。

Pycnodysostosis. A variant form with visceral manifestations.

作者信息

Kozlowski K, Yu J S

出版信息

Arch Dis Child. 1972 Oct;47(255):804-7. doi: 10.1136/adc.47.255.804.

DOI:10.1136/adc.47.255.804
PMID:5086514
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1648221/
Abstract

The history of a 3-year-old boy is presented who has clinical and radiological features of pycnodysostosis. He also suffers from haematological and visceral complications suggestive of osteopetrosis, which have not previously been described in pycnodysostosis. This variant form of dense bone disease appears to provide the clinical link between pycnodysostosis and osteopetrosis and shows yet another example of phenotypic and perhaps genotypic heterogeneity in metabolic diseases.

摘要

本文介绍了一名3岁男孩的病史，他具有致密性骨发育不全的临床和放射学特征。他还患有提示骨硬化症的血液学和内脏并发症，这在致密性骨发育不全中此前尚未有过描述。这种致密性骨病的变异形式似乎在致密性骨发育不全和骨硬化症之间建立了临床联系，并展示了代谢性疾病中表型甚至基因型异质性的又一个例子。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cac/1648221/38ee2ebf9c09/archdisch00871-0142-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cac/1648221/10ad667e49e4/archdisch00871-0141-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cac/1648221/eef6b85ae1a0/archdisch00871-0141-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cac/1648221/c1fe5d35da3c/archdisch00871-0141-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cac/1648221/1a4ec3b6c079/archdisch00871-0142-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cac/1648221/1f20609b4417/archdisch00871-0142-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cac/1648221/38ee2ebf9c09/archdisch00871-0142-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cac/1648221/10ad667e49e4/archdisch00871-0141-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cac/1648221/eef6b85ae1a0/archdisch00871-0141-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cac/1648221/c1fe5d35da3c/archdisch00871-0141-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cac/1648221/1a4ec3b6c079/archdisch00871-0142-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cac/1648221/1f20609b4417/archdisch00871-0142-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cac/1648221/38ee2ebf9c09/archdisch00871-0142-c.jpg

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1
Pycnodysostosis. A variant form with visceral manifestations.致密性骨发育不全。一种伴有内脏表现的变异型。
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引用本文的文献

1
Alternative Method for Full Oral Rehabilitation in Patients with Pycnodysostosis Syndrome: A Case Report.致密性骨发育不全综合征患者全口修复的替代方法：病例报告
Clin Cosmet Investig Dent. 2020 Apr 15;12:131-139. doi: 10.2147/CCIDE.S247614. eCollection 2020.
2
A patient with pycnodysostosis presenting with seizures and porencephalic cysts.一名患有致密性骨发育不全的患者，出现癫痫发作和脑穿通畸形囊肿。
J Neurosci Rural Pract. 2014 Jul;5(3):284-6. doi: 10.4103/0976-3147.133606.
3
Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case.

本文引用的文献

1
Pycnodysostosis, with a familial chromosome anomaly.致密性骨发育不全，伴家族性染色体异常。
Am J Med. 1966 Feb;40(2):273-82. doi: 10.1016/0002-9343(66)90108-2.
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[Dysosteosclerosis--a special form of generalized osteosclerosis].
Fortschr Geb Rontgenstr Nuklearmed. 1968 Oct;109(4):504-12.
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Osteopetrosis.骨质石化症
Arch Dis Child. 1971 Jun;46(247):257-63. doi: 10.1136/adc.46.247.257.
伴有新基因突变和严重阻塞性睡眠呼吸暂停的致密性骨发育不全：一例复杂病例的管理
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High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.组织蛋白酶K前肽有新突变的致密性成骨不全患者的高骨矿物质密度
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Pyknodysostosis: visceral manifestations and simian crease.致密性骨发育不全：内脏表现与猿线
Indian J Pediatr. 2004 May;71(5):453-5. doi: 10.1007/BF02725641.
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Pycnodysostosis with anemia.致密性成骨不全伴贫血
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An unusual case of pycnodysostosis.一例罕见的致密性骨发育不全病例。
Arch Dis Child. 1988 May;63(5):558-9. doi: 10.1136/adc.63.5.558.
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Pycnodysostosis with Heterozygous beta-thalassemia.致密性骨发育不全合并杂合子β地中海贫血
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4
Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form.骨硬化症。显性遗传良性型的临床、遗传、代谢及形态学研究。
Medicine (Baltimore). 1968 Mar;47(2):149-67.