Literature DB >> 924443

Split hand and food deformity and the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC). A report of five patients.

R Schmidt, H M Nitowsky.   

Abstract

Five new casses of ectrodactyly are described. Two patients have the syndrome of ectrodactyly, extodermal dysplasia, and clefting (EEC). In one patient with the EEC syndrome, the disorder seems to represent a new mutation. One woman with isolated ectrodactyly has a daughter with the EEC syndrome. The variation in the clinical expression of this disorder among affected members of the same family makes it difficult to determine whether there may be several mutant alleles responsible for ectrodactyly and its related manifestations.

Entities:  

Mesh:

Year:  1977        PMID: 924443     DOI: 10.1007/bf00273149

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  17 in total

1.  Identical tetramelic monodactyly in two brothers.

Authors:  J Svejcar; J Kleinebrecht; K H Degenhardt
Journal:  Clin Genet       Date:  1976-02       Impact factor: 4.438

2.  Split-hand and split-foot deformity inherited as an autosomal recessive trait.

Authors:  I C Verma; R Joseph; S Bhargava; S Mehta
Journal:  Clin Genet       Date:  1976-01       Impact factor: 4.438

3.  The EEC syndrome. Report of six patients.

Authors:  H M Pashayan; S Pruzansky; L Solomon
Journal:  Birth Defects Orig Artic Ser       Date:  1974

4.  The lobster claw defect with ectodermal defects, cleft lip-palate, tear duct anomaly and renal anomalies.

Authors:  M Preus; F C Fraser
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

5.  Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome. Its association with conductive hearing loss.

Authors:  G C Robinson; L S Wildervanck; T P Chiang
Journal:  J Pediatr       Date:  1973-01       Impact factor: 4.406

6.  The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate: report of a family demonstrating a dominant inheritance pattern.

Authors:  C B Brill; L Y Hsu; K Hirschhorn
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438

7.  Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.

Authors:  K Fried
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438

8.  Dominant ectrodactyly and possible germinal mosaicism.

Authors:  T J David
Journal:  J Med Genet       Date:  1972-09       Impact factor: 6.318

9.  A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities.

Authors:  N Freire-Maia
Journal:  Am J Hum Genet       Date:  1970-07       Impact factor: 11.025

10.  Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature.

Authors:  A Rosenmann; T Shapira; M M Cohen
Journal:  Clin Genet       Date:  1976-03       Impact factor: 4.438

View more
  1 in total

1.  Monodactylous splithand-splitfoot. A malformation occurring in three distinct genetic types.

Authors:  G Bujdoso; W Lenz
Journal:  Eur J Pediatr       Date:  1980-05       Impact factor: 3.183

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.