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Conductive hearing loss and malformed low-set ears, as a possible recessive syndrome.

作者信息

Mengel M C, Konigsmark B W, Berlin C I, McKusick V A

出版信息

J Med Genet. 1969 Mar;6(1):14-21. doi: 10.1136/jmg.6.1.14.

DOI:10.1136/jmg.6.1.14
PMID:5771216
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1468697/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08f4/1468697/8dfd22451c7b/jmedgene00372-0024-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08f4/1468697/e05709bd7efb/jmedgene00372-0022-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08f4/1468697/5c22ead4fbc3/jmedgene00372-0023-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08f4/1468697/8dfd22451c7b/jmedgene00372-0024-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08f4/1468697/e05709bd7efb/jmedgene00372-0022-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08f4/1468697/5c22ead4fbc3/jmedgene00372-0023-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08f4/1468697/8dfd22451c7b/jmedgene00372-0024-a.jpg

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1
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引用本文的文献

1
Victor A. McKusick, the "Father of Medical Genetics".维克多·A·麦库西克，“医学遗传学之父”。
Audiol Res. 2021 Nov 25;11(4):636-638. doi: 10.3390/audiolres11040058.
2
[Auricle dystopia, auricle dysplasia and auricle deformity--clinical evaluation and significance as a symptom].
Arch Klin Exp Ohren Nasen Kehlkopfheilkd. 1972;202(1):51-84.
3
Autosomal recessive sensorineural-conductive deafness, mental retardation, and pinna anomalies.常染色体隐性遗传性感觉神经性传导性耳聋、智力发育迟缓及耳廓异常。

本文引用的文献

1
Familial ataxia, deaf-mutism, and muscular wasting.家族性共济失调、聋哑症和肌肉萎缩。
J Neurol Neurosurg Psychiatry. 1950 Nov;13(4):307-11. doi: 10.1136/jnnp.13.4.307.
2
CONGENITAL DEAFNESS ASSOCIATED WITH ELECTROCARDIOGRAPHIC ABNORMALITIES, FAINTING ATTACKS AND SUDDEN DEATH. A RECESSIVE SYNDROME.与心电图异常、晕厥发作及猝死相关的先天性耳聋。一种隐性综合征。
Q J Med. 1964 Jul;33:361-85.
3
Hereditary malformations of the ear in three generations. Marginal pits, pre-auricular appendages, malformations of the auricle and conductive deafness.
Hum Genet. 1978 Jan 19;40(2):231-4. doi: 10.1007/BF00272307.
Acta Otolaryngol. 1962 Jun;54:553-60. doi: 10.3109/00016486209126973.
4
Deafness with sporadic goiter. Pendred's syndrome.耳聋伴散发性甲状腺肿。彭德莱德综合征。
Arch Otolaryngol. 1962 Nov;76:401-6. doi: 10.1001/archotol.1962.00740050413004.
5
Deafness and the Treacher Collins syndrome.
J Laryngol Otol. 1961 Nov;75:978-84. doi: 10.1017/s0022215100058758.
6
Familial nephrosis associated with deafness and congenital urinary tract anomalies in siblings.家族性肾病伴兄弟姐妹耳聋及先天性泌尿系统异常。
J Pediatr. 1962 Jan;60:33-41. doi: 10.1016/s0022-3476(62)80005-5.
7
Hereditary deafness in family with ear-pits (fistula auris congenita).伴有耳前瘘管（先天性耳瘘）的家族性遗传性耳聋。
Br Med J. 1955 Dec 3;2(4952):1354-6. doi: 10.1136/bmj.2.4952.1354.
8
Understanding hereditary nerve deafness.了解遗传性神经性耳聋。
Arch Otolaryngol. 1967 Jan;85(1):23-40. doi: 10.1001/archotol.1967.00760040025007.