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伴有耳道闭锁和传导性耳聋的小耳畸形：同一家庭中的轻度和重度表现。

Microtia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship.

作者信息

Strisciuglio P, Ballabio A, Parenti G

出版信息

J Med Genet. 1986 Oct;23(5):459-60. doi: 10.1136/jmg.23.5.459.

DOI:10.1136/jmg.23.5.459
PMID:3783624
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049785/
Abstract

Hereditary malformations of the external ear, such as microtia and meatal atresia, not associated with other congenital defects or syndromes, are rarely reported. Only a few familial cases have been described in which both dominant and recessive inheritance has been suggested. We report a sibship in which a wide variation of expression is present and recessive inheritance can be postulated.

摘要

外耳的遗传性畸形，如小耳畸形和耳道闭锁，若不伴有其他先天性缺陷或综合征，则鲜有报道。仅有少数家族病例被描述，其中既有显性遗传也有隐性遗传的推测。我们报告了一个家系，其中存在广泛的表型变异，可假定为隐性遗传。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/01e9/1049785/7af6352d792e/jmedgene00091-0076-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/01e9/1049785/e7a2ce77450d/jmedgene00091-0075-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/01e9/1049785/387a734b29f8/jmedgene00091-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/01e9/1049785/7af6352d792e/jmedgene00091-0076-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/01e9/1049785/e7a2ce77450d/jmedgene00091-0075-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/01e9/1049785/387a734b29f8/jmedgene00091-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/01e9/1049785/7af6352d792e/jmedgene00091-0076-b.jpg

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本文引用的文献

1
Familial microtia with meatal atresia in two sibships.两个同胞家庭中出现的伴有外耳道闭锁的家族性小耳畸形。
J Med Genet. 1968 Dec;5(4):289-91. doi: 10.1136/jmg.5.4.289.
2
Recessive microtia, meatal atresia, and hearing loss. Report of a sibship.隐性小耳畸形、耳道闭锁与听力损失。一家系报告。
Arch Otolaryngol. 1972 Aug;96(2):105-9. doi: 10.1001/archotol.1972.00770090179002.
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Letter: Familial microtia and meatal atresia.信件：家族性小耳畸形和耳道闭锁
Appl Clin Genet. 2011 Jul 6;4:93-7. doi: 10.2147/TACG.S12643. Print 2011.
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Microtia: epidemiology and genetics.小耳畸形：流行病学与遗传学。
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Microtia-anotia: a global review of prevalence rates.小耳畸形-无耳畸形：全球患病率综述。
Birth Defects Res A Clin Mol Teratol. 2011 Sep;91(9):813-22. doi: 10.1002/bdra.20836. Epub 2011 Jun 7.
J Med Genet. 1973 Sep;10(3):305-6. doi: 10.1136/jmg.10.3.305-a.
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Microtia and meatal atresia in mother and son.
Clin Genet. 1978 Aug;14(2):80-2. doi: 10.1111/j.1399-0004.1978.tb02110.x.