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骨颌发育不良:一例新病例。

Osteoglophonic dysplasia: a new case.

作者信息

Santos H, Campos P, Alves R, Torrado A

机构信息

Servico de Pediatria, Hospital Santa Maria, Lisabon, Portugal.

出版信息

Eur J Pediatr. 1988 Jun;147(5):547-9. doi: 10.1007/BF00441988.

DOI:10.1007/BF00441988
PMID:3409933
Abstract

A new case of osteoglophonic dysplasia is described in a Portuguese boy. The clinical and radiographic features are similar to the five previously described cases. The boy died suddenly at 10 months of age.

摘要

一名葡萄牙男童被诊断出患有骨软骨发育异常的新病例。其临床和影像学特征与之前描述的五个病例相似。该男童在10个月大时突然死亡。

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Osteoglophonic dysplasia: a new case.骨颌发育不良:一例新病例。
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New Phenotypic Features in FGFR1-Related Osteoglophonic Dysplasia.FGFR1相关骨肥厚发育不良的新表型特征。
Am J Med Genet A. 2025 Sep;197(9):e64092. doi: 10.1002/ajmg.a.64092. Epub 2025 Apr 22.
2
Abnormal eruption of teeth in relation to FGFR1 heterozygote mutation: a rare case of osteoglophonic dysplasia with 4-year follow-up.与 FGFR1 杂合突变相关的牙齿异常萌出:伴有 4 年随访的骨齿发育不良的罕见病例。
BMC Oral Health. 2022 Feb 11;22(1):36. doi: 10.1186/s12903-022-02069-6.
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Osteoglophonic Dysplasia: Phenotypic and Radiological Clues.

本文引用的文献

1
Osteoglophonic dwarfism.骨软骨发育不全性侏儒症
Pediatr Radiol. 1980 Sep;10(1):46-50. doi: 10.1007/BF01644343.
2
Osteoglophonic dwarfism in two generations.两代人中的骨软骨发育不全性侏儒症。
J Med Genet. 1983 Dec;20(6):436-40. doi: 10.1136/jmg.20.6.436.
3
Craniofacial dysotosis with fibrous metaphyseal deffects.
Am J Roentgenol Radium Ther Nucl Med. 1975 Jun;124(2):271-5. doi: 10.2214/ajr.124.2.271.
骨舌发育不良:表型和影像学线索
J Pediatr Genet. 2017 Dec;6(4):247-251. doi: 10.1055/s-0037-1602816. Epub 2017 May 5.
4
Osteoglophonic dysplasia.骨颌发育不良
J Med Genet. 1989 Sep;26(9):572-6. doi: 10.1136/jmg.26.9.572.