ECP综合征，单指型缺指畸形的另一种常染色体显性病因。 - Suppr

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The ECP syndrome, another autosomal dominant cause of monodactylous ectrodactyly.

作者信息

Opitz J M, Frias J L, Cohen M M

出版信息

Eur J Pediatr. 1980 May;133(3):217-20. doi: 10.1007/BF00496079.

DOI:10.1007/BF00496079

PMID:7389733

Abstract

摘要

相似文献

The ECP syndrome, another autosomal dominant cause of monodactylous ectrodactyly.ECP综合征，单指型缺指畸形的另一种常染色体显性病因。

Eur J Pediatr. 1980 May;133(3):217-20. doi: 10.1007/BF00496079.

[Ectrodactyly, ectodermal dysplasia, and cleft lip and palate: an hereditary syndrome with an autosomal dominant mode of inheritance (author's transl)].缺指（趾）畸形、外胚层发育不良与唇腭裂：一种常染色体显性遗传模式的遗传性综合征（作者译）

Z Kinderheilkd. 1973 Oct 1;115(3):235-44.

[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]

Orv Hetil. 1984 Mar 11;125(11):633-8.

Counseling dilemmas in EEC syndrome.无汗性外胚层发育不良综合征中的咨询困境

Genet Couns. 2000;11(1):19-24.

Split hand and food deformity and the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC). A report of five patients.裂手裂足畸形与缺指（趾）、外胚层发育不良和腭裂综合征（EEC）。五例患者报告。

Hum Genet. 1977 Nov 2;39(1):15-25. doi: 10.1007/BF00273149.

EEC syndrome: report on 20 new patients, clinical and genetic considerations.EEC综合征：20例新患者的报告、临床及遗传学考量

Am J Med Genet. 1990 Sep;37(1):42-53. doi: 10.1002/ajmg.1320370112.

Monodactylous splithand-splitfoot. A malformation occurring in three distinct genetic types.单指（趾）型裂手裂足。一种以三种不同遗传类型出现的畸形。

Eur J Pediatr. 1980 May;133(3):207-15. doi: 10.1007/BF00496078.

Keratopathy in a family with the ectrodactyly-ectodermal dysplasia-clefting syndrome.患有缺指（趾）-外胚层发育不良-腭裂综合征家族中的角膜病变

Ophthalmology. 1985 Oct;92(10):1427-31. doi: 10.1016/s0161-6420(85)33847-2.

Dominant inheritance of cleft palate with minor abnormalities of hands and feet: a new syndrome?

Clin Dysmorphol. 1999 Jul;8(3):193-7.

Unusual facies, cleft palate, mental retardation, and limb abnormalities in siblings--a new syndrome.同胞兄妹出现特殊面容、腭裂、智力发育迟缓及肢体异常——一种新综合征。

J Pediatr. 1971 Apr;78(4):686-9. doi: 10.1016/s0022-3476(71)80477-8.

引用本文的文献

SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?父母正常但患有缺指（趾）-外胚层发育不良和唇腭裂（EEC）综合征的同胞手足：生殖系嵌合体？

Rev Paul Pediatr. 2017 Apr-Jun;35(2):234-238. doi: 10.1590/1984-0462/;2017;35;2;00017. Epub 2017 May 15.

The p63 gene in EEC and other syndromes.EEC及其他综合征中的p63基因。

J Med Genet. 2002 Jun;39(6):377-81. doi: 10.1136/jmg.39.6.377.

Splitting p63.切割p63

Am J Hum Genet. 2002 Jul;71(1):1-13. doi: 10.1086/341450. Epub 2002 May 30.

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.肢体乳腺综合征：一种伴有乳腺发育不全、缺指（趾）畸形及其他手足异常的新型遗传性疾病，定位于人类染色体3q27。

Am J Hum Genet. 1999 Feb;64(2):538-46. doi: 10.1086/302246.

本文引用的文献

Ectodermal dysplasia.外胚层发育不良

Br J Plast Surg. 1961 Oct;14:190-204. doi: 10.1016/s0007-1226(61)80036-2.

Monodactylous splithand-splitfoot. A malformation occurring in three distinct genetic types.单指（趾）型裂手裂足。一种以三种不同遗传类型出现的畸形。

Eur J Pediatr. 1980 May;133(3):207-15. doi: 10.1007/BF00496078.

Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate.缺指（趾）畸形、外胚层发育不良和唇腭裂综合征

Am J Dis Child. 1970 Aug;120(2):160-3. doi: 10.1001/archpedi.1970.02100070104016.

Dysmorphology (teratology).畸形学（致畸学）。

J Pediatr. 1966 Dec;69(6):1150-69. doi: 10.1016/s0022-3476(66)80311-6.

The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate: report of a family demonstrating a dominant inheritance pattern.缺指（趾）-外胚层发育不良-唇腭裂综合征：一个显示显性遗传模式的家系报告。

Clin Genet. 1972;3(5):295-302. doi: 10.1111/j.1399-0004.1972.tb01461.x.

The ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Report of 2 cases and review of the literature.缺指（趾）-外胚层发育不良-唇腭裂（EEC）综合征。2例报告并文献复习。

Clin Genet. 1972;3(1):43-51. doi: 10.1111/j.1399-0004.1972.tb01724.x.

Z Kinderheilkd. 1973 Oct 1;115(3):235-44.

The lobster claw defect with ectodermal defects, cleft lip-palate, tear duct anomaly and renal anomalies.伴有外胚层缺陷、唇腭裂、泪道异常和肾脏异常的龙虾爪畸形。

Clin Genet. 1973;4(5):369-75. doi: 10.1111/j.1399-0004.1973.tb01162.x.

The EEC syndrome. Report of six patients.EEC综合征。6例患者报告。

Birth Defects Orig Artic Ser. 1974;10(7):105-27.

Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature.缺指（趾）-外胚层发育不良-腭裂综合征（EEC综合征）。一家系报告及文献复习

Clin Genet. 1976 Mar;9(3):347-53. doi: 10.1111/j.1399-0004.1976.tb01585.x.

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