Literature DB >> 957377

Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression.

V B Penchaszadeh, T C de Negrotti.   

Abstract

An infant is reported with a complete form of the ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome, inherited from his mother, who has a partial expression of the condition, without clefting. This observation stresses the phenotypic variability of the EEC syndrome, which in most cases is inherited as an autosomal dominant with reduced penetrance.

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Mesh：

Year:  1976        PMID： 957377      PMCID： PMC1013416          DOI： 10.1136/jmg.13.4.281

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  7 in total

1.  THE SYNDROMES OF CLEFT LIP, CLEFT PALATE AND LOBSTER-CLAW DEFORMITIES OF HANDS AND FEET.

Authors:  J C WALKER; L CLODIUS
Journal:  Plast Reconstr Surg       Date:  1963-12       Impact factor: 4.730

2.  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

3.  The ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Report of 2 cases and review of the literature.

Authors:  D Bixler; J Spivack; J Bennett; J C Christian
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438

4.  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

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

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

6.  Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate.

Authors:  R A Rüdiger; W Haase; E Passarge
Journal:  Am J Dis Child       Date:  1970-08

7.  The EEC syndrome.

Authors:  C Pries; D Mittelman; M Miller; L M Solomon; H M Pashayan; S Pruzansky
Journal:  Am J Dis Child       Date:  1974-06
  7 in total
  9 in total

1.  How many fingers should be there to be a competent electrician?-two cases of ectrodactyly.

Authors:  Chandrasekharan Rajasekharan; Thomas Nishanth
Journal:  BMJ Case Rep       Date:  2012-06-14

2.  Dilemmas in counselling: the EEC syndrome.

Authors:  K Tse; I K Temple; M Baraitser
Journal:  J Med Genet       Date:  1990-12       Impact factor: 6.318

3.  EEC syndrome without ectrodactyly: report of two new families.

Authors:  J P Fryns; E Legius; A M Dereymaeker; H Van den Berghe
Journal:  J Med Genet       Date:  1990-03       Impact factor: 6.318

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

Authors:  J M Opitz; J L Frias; M M Cohen
Journal:  Eur J Pediatr       Date:  1980-05       Impact factor: 3.183

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

Authors:  R Schmidt; H M Nitowsky
Journal:  Hum Genet       Date:  1977-11-02       Impact factor: 4.132

6.  Treatment of Cleft Foot Deformity using Fish Mouth Incision and Suture-Button in Paediatric Foot: A case report.

Authors:  Amit Narang; Ayanjit Chattopadhyay; Amit Sharma; Sumit Gupta
Journal:  Sultan Qaboos Univ Med J       Date:  2022-05-26

7.  Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.

Authors:  J Christodoulou; P N McDougall; L J Sheffield
Journal:  J Med Genet       Date:  1989-09       Impact factor: 6.318

8.  Twenty-four cases of the EEC syndrome: clinical presentation and management.

Authors:  P W Buss; H E Hughes; A Clarke
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

Review 9.  The power of zebrafish models for understanding the co-occurrence of craniofacial and limb disorders.

Authors:  Brittany T Truong; Kristin B Artinger
Journal:  Genesis       Date:  2021-01-04       Impact factor: 2.487
  9 in total

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