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[A family with the EEC syndrome (ectrodactily, ectodermal dysplasia clefting syndrome): clinical variability and genetic counseling].

作者信息

Gualandri V, Ronzoni M G, Montagnani A, Orsini G B

出版信息

J Fr Ophtalmol. 1986;9(12):855-7.

PMID:3571845
Abstract

In a family with segregation of EEC-Syndrome we observed five children--two girls and three males--(two of them dizygotic twins) affected by very various phenotypes of the syndrome. The ocular symptomatology was represented by agenesis or stenosis of lacrimal ducts: two children were operated, the other suffered from frequent inflammations. The study of the family suggest an autosomic dominant heredity with defect of penetrance on the father.

摘要

相似文献

1
[A family with the EEC syndrome (ectrodactily, ectodermal dysplasia clefting syndrome): clinical variability and genetic counseling].
J Fr Ophtalmol. 1986;9(12):855-7.
2
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.
3
EC syndrome in a girl with paracentric inversion (7)(q22.1;q36.3).一名患有臂间倒位(7)(q22.1;q36.3)的女孩的EC综合征。
Clin Dysmorphol. 1993 Jan;2(1):62-7.
4
[Ectrodactyly, ectodermal dysplasia, cleft lip and palate syndrome (EEC syndrome)].缺指(趾)-外胚层发育不良-唇腭裂综合征(EEC综合征)
Orv Hetil. 1989 Oct 8;130(41):2211-2.
5
[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.
6
Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome.泌尿生殖系统异常是外胚层发育不良、缺指(趾)畸形、唇腭裂(EEC)综合征的一种组成性表现。
Am J Med Genet. 1988 Jan;29(1):131-6. doi: 10.1002/ajmg.1320290116.
7
Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome in twins.双胞胎中的缺指(趾)-外胚层发育不良-唇腭裂综合征
Ann Plast Surg. 2001 Nov;47(5):580-1. doi: 10.1097/00000637-200111000-00025.
8
[Dysmaturity as symptom of the ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome].[发育不全作为裂手裂足-外胚层发育不良-腭裂(EEC)综合征的症状]
Tijdschr Kindergeneeskd. 1993 Jun;61(3):96-9.
9
[Genetic characteristics of the "EEC" syndrome (ectrodactyly, ectodermal dysplasis, cheilognathopalatoschisis)].["EEC"综合征(缺指(趾)畸形、外胚层发育不良、唇腭裂)的遗传学特征]
Genetika. 1976;12(7):125-31.
10
The syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC).缺指(趾)-外胚层发育不良-唇腭裂综合征(EEC)
J Oral Surg. 1975 Mar;33(3):192-8.

引用本文的文献

1
The EEC syndrome and its ocular manifestations.EEC综合征及其眼部表现。
Br J Ophthalmol. 1989 Apr;73(4):261-4. doi: 10.1136/bjo.73.4.261.