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三例眼牙指(ODD)综合征新病例:面部表型的发展

Three new cases of oculodentodigital (ODD) syndrome: development of the facial phenotype.

作者信息

Patton M A, Laurence K M

出版信息

J Med Genet. 1985 Oct;22(5):386-9. doi: 10.1136/jmg.22.5.386.

DOI:10.1136/jmg.22.5.386
PMID:3935793
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049484/
Abstract

Three new cases of oculodentodigital (ODD) syndrome are reported. The clinical features are discussed and the development of the characteristic facial appearance is illustrated. Conductive deafness is reported in one of our cases and has been reported in six previous cases. It is suggested that it is a feature of the syndrome which is amenable to treatment.

摘要

报告了3例眼牙指(ODD)综合征新病例。讨论了临床特征,并展示了特征性面部外观的发展情况。我们的1例病例报告了传导性耳聋,之前也有6例报告过。提示这是该综合征的一个特征,可进行治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1bc/1049484/811ea08abee2/jmedgene00097-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1bc/1049484/5f2392539c4e/jmedgene00097-0058-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1bc/1049484/920822b44914/jmedgene00097-0059-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1bc/1049484/26538b8915d0/jmedgene00097-0059-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1bc/1049484/1c60c33ac04c/jmedgene00097-0060-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1bc/1049484/811ea08abee2/jmedgene00097-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1bc/1049484/5f2392539c4e/jmedgene00097-0058-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1bc/1049484/920822b44914/jmedgene00097-0059-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1bc/1049484/26538b8915d0/jmedgene00097-0059-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1bc/1049484/1c60c33ac04c/jmedgene00097-0060-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1bc/1049484/811ea08abee2/jmedgene00097-0061-a.jpg

相似文献

1
Three new cases of oculodentodigital (ODD) syndrome: development of the facial phenotype.三例眼牙指(ODD)综合征新病例:面部表型的发展
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Intern Med. 2021 Jul 15;60(14):2301-2305. doi: 10.2169/internalmedicine.6145-20. Epub 2021 Feb 22.
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本文引用的文献

1
A HEREDITARY SYNDROME: "DYSPLASIA OCULODENTODIGITALIS.一种遗传性综合征:“眼齿指发育异常综合征”
Arch Ophthalmol. 1964 Feb;71:187-92. doi: 10.1001/archopht.1964.00970010203009.
2
Oculodentodigital dysplasia.眼牙指发育不全
J Pediatr. 1963 Jul;63:69-75. doi: 10.1016/s0022-3476(63)80304-2.
3
[The microphthalmos syndrome].[小眼畸形综合征]
Br J Ophthalmol. 1998 Mar;82(3):276-9. doi: 10.1136/bjo.82.3.276.
4
Oculodental digital dysplasia: neuroimaging in a kindred.眼牙指发育不全:一个家族的神经影像学表现
Neuroradiology. 1996 Jan;38(1):84-6. doi: 10.1007/BF00593230.
5
Craniotubular bone disorders.颅骨管状骨疾病。
Pediatr Radiol. 1994;24(6):392-406. doi: 10.1007/BF02011904.
6
Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum?眼牙指发育不全与Ⅲ型并指(趾)畸形:独立的遗传实体还是疾病谱系?
J Med Genet. 1990 Mar;27(3):169-75. doi: 10.1136/jmg.27.3.169.
7
International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.骨软骨发育不良的国际分类。国际骨骼先天性疾病工作组。
Eur J Pediatr. 1992 Jun;151(6):407-15. doi: 10.1007/BF01959352.
Klin Monbl Augenheilkd Augenarztl Fortbild. 1957;131(1):18-30.
4
The question of hypertelorism in oculodentoosseous dysplasia.眼牙骨发育异常中的眼距过宽问题。
Am J Med Genet. 1981;10(1):101-2. doi: 10.1002/ajmg.1320100112.
5
Oculodentodigital dysplasia.眼牙指发育不全
Am J Dis Child. 1969 Oct;118(4):600-7. doi: 10.1001/archpedi.1969.02100040602013.
6
Orodigitofacial dysostosis and oculodentodigital dysplasia. Two distinct syndromes with some similarities.口指面部发育不全和眼齿指发育异常。两种不同但有一些相似之处的综合征。
Oral Surg Oral Med Oral Pathol. 1967 Mar;23(3):311-9. doi: 10.1016/0030-4220(67)90141-7.
7
Roentgen differentiation of the oculodentodigital syndrome and the Hallermann-Streiff syndrome in infancy.婴儿期眼牙指综合征与哈勒曼-施特雷夫综合征的X线鉴别诊断
Radiology. 1966 Jan;86(1):77-86. doi: 10.1148/86.1.77.
8
Older paternal age and fresh gene mutation: data on additional disorders.父亲年龄较大与新的基因突变:关于其他疾病的数据。
J Pediatr. 1975 Jan;86(1):84-8. doi: 10.1016/s0022-3476(75)80709-8.
9
Oculodentodigital dysplasia. Four new reports and a literature review.
Arch Ophthalmol. 1979 May;97(5):878-84. doi: 10.1001/archopht.1979.01020010436007.
10
Oculodentodigital dysplasia syndrome. Report of four cases.眼牙指发育不全综合征。4例报告。
Acta Paediatr Scand. 1977 Sep;66(5):635-8. doi: 10.1111/j.1651-2227.1977.tb07960.x.