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Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies.

作者信息

Rapp R S, Hodgkin W E

出版信息

J Med Genet. 1968 Dec;5(4):269-72. doi: 10.1136/jmg.5.4.269.

DOI:10.1136/jmg.5.4.269
PMID:5713637
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1468665/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5088/1468665/ca29c60ad72e/jmedgene00379-0016-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5088/1468665/6d569b27dad1/jmedgene00379-0016-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5088/1468665/0bdfddc477e1/jmedgene00379-0016-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5088/1468665/ca29c60ad72e/jmedgene00379-0016-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5088/1468665/6d569b27dad1/jmedgene00379-0016-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5088/1468665/0bdfddc477e1/jmedgene00379-0016-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5088/1468665/ca29c60ad72e/jmedgene00379-0016-c.jpg

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Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies.无汗性外胚层发育不良：常染色体显性遗传伴腭和唇异常。
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Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome. Its association with conductive hearing loss.缺指（趾）-外胚层发育不良-唇腭裂综合征。其与传导性听力损失的关联。
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[Familial split hand and foot, cleft lip and palate, ectodermal dysplasia syndrome].[家族性裂手裂足、唇腭裂、外胚层发育不良综合征]
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[Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity].[缺指（趾）、外胚层发育不良和唇腭裂综合征，1例具有可变表达型的病例报告]
Arch Argent Pediatr. 2012 Oct;110(5):e95-8. doi: 10.5546/aap.2012.e95.

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本文引用的文献

1
Hereditary anhidrotic ectodermal dysplasia, a clinical and pathologic study.遗传性无汗性外胚层发育不良：一项临床与病理研究
Arch Derm Syphilol. 1949 Dec;60(6):1170-83, illust. doi: 10.1001/archderm.1949.01530070110011.
2
Electrical skin resistance studies in two persons with congenital absence of sweat glands.对两名先天性无汗腺患者的皮肤电阻研究。
AMA Arch Derm Syphilol. 1952 May;65(5):543-8. doi: 10.1001/archderm.1952.01530240035004.
3
CONGENITAL ECTODERMAL DYSPLASIA OF THE FACE.面部先天性外胚层发育不良
J Clin Med. 2021 Aug 30;10(17):3901. doi: 10.3390/jcm10173901.
4
Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders.三个中国家系中杂合性 TP63 突变导致的 EEC 和 AEC 综合征的牙齿缺陷，以及 TP63 相关疾病的基因型-表型相关性分析。
Mol Genet Genomic Med. 2019 Jun;7(6):e704. doi: 10.1002/mgg3.704. Epub 2019 May 2.
5
Two case reports with literature review of the EEC syndrome: Clinical presentation and management.两例EEC综合征病例报告及文献综述：临床表现与治疗
Case Reports Plast Surg Hand Surg. 2015 Sep 24;2(3-4):63-6. doi: 10.3109/23320885.2015.1086273. eCollection 2015.
6
Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome.外胚层发育不良显示出海伊-韦尔斯综合征和鲍恩-阿姆斯特朗综合征之间的临床重叠。
Iran J Pediatr. 2011 Mar;21(1):121-5.
7
[Anhidrotic ectodermal dysplasia: report of one case at Mother and Child Center of Chantal Biya Foundation, Yaounde, Cameroon].
Pan Afr Med J. 2010 Mar 11;4:9. doi: 10.4314/pamj.v4i1.53601.
8
Acro-cardio-facial syndrome.肢心颜面部综合征。
Orphanet J Rare Dis. 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25.
9
[Skin and teeth].[皮肤与牙齿]
Hautarzt. 2009 Jul;60(7):583-97; quiz 598. doi: 10.1007/s00105-009-1789-y.
10
Concepts for the treatment of adolescent patients with missing permanent teeth.青少年恒牙缺失患者的治疗理念。
Oral Maxillofac Surg. 2008 Jul;12(2):49-60. doi: 10.1007/s10006-008-0109-5.
Pediatrics. 1963 Oct;32:540-8.
4
Ectodermal dysplasia; report of kindred with ocular abnormalities and hearing defect.外胚层发育不良；伴有眼部异常和听力缺陷的家族报告。
Am J Ophthalmol. 1958 Apr;45(4 Pt 2):143-56.
5
Gene effect in carriers of anhidrotic ectodermal dysplasia.无汗性外胚层发育不良携带者的基因效应。
J Med Genet. 1966 Sep;3(3):169-76. doi: 10.1136/jmg.3.3.169.