Literature DB >> 7897634

An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).

A Giannotti1, M C Digilio, R Mingarelli, B Dallapiccola.   

Abstract

We report a brother and sister affected by a constellation of malformations, including cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). A similar association has been reported previously by Richieri-Costa and Orquizas in a male patient born to consanguineous parents. An autosomal recessive pattern of inheritance is proposed for this syndrome.

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Mesh：

Year:  1995        PMID： 7897634      PMCID： PMC1050185          DOI： 10.1136/jmg.32.1.72

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


  5 in total

1.  The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect.

Authors:  F Greenberg; M V Gresik; R J Carpenter; S W Law; L P Hoffman; D H Ledbetter
Journal:  Am J Med Genet       Date:  1987-01

2.  Apparently new oculo-cerebro-acral syndrome.

Authors:  J F Atkin; S Patil
Journal:  Am J Med Genet       Date:  1984-11

Review 3.  EEC syndrome: report on 20 new patients, clinical and genetic considerations.

Authors:  E S Rodini; A Richieri-Costa
Journal:  Am J Med Genet       Date:  1990-09

4.  Ectrodactyly, cleft lip/palate syndrome.

Authors:  E S Rodini; J A Freitas; A Richieri-Costa
Journal:  Am J Med Genet       Date:  1991-03-15

5.  A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies.

Authors:  G Malpuech; F Demeocq; J B Palcoux; P Vanlieferinghen
Journal:  Am J Med Genet       Date:  1983-12
  5 in total
  4 in total

1.  Confirmation of 6q21-6q22.1 deletion in acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome.

Authors:  Cindy Hudson; Corbin Schwanke; John P Johnson; Abdallah F Elias; Sandy Phillips; Tammy Schwalbe; Mary Tunby; Dongbin Xu
Journal:  Am J Med Genet A       Date:  2014-04-08       Impact factor: 2.802

2.  FGF-16 is required for embryonic heart development.

Authors:  Shun Yan Lu; Farah Sheikh; Patricia C Sheppard; Agnes Fresnoza; Mary Lynn Duckworth; Karen A Detillieux; Peter A Cattini
Journal:  Biochem Biophys Res Commun       Date:  2008-06-17       Impact factor: 3.575

Review 3.  Acro-cardio-facial syndrome.

Authors:  Maria Cristina Digilio; Bruno Dallapiccola
Journal:  Orphanet J Rare Dis       Date:  2010-09-29       Impact factor: 4.123

4.  SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?

Authors:  Rafael Fabiano Machado Rosa; Samir Abou Ghaouche de Moraes; Leonardo Paludo Sulczinski; Filipe Augusto da Silva; Olga Gaio Milner; Silvana Rodrigues Streit Pires; Osvaldo Alfonso Pinto Artigalas; Rosana Cardoso Manique Rosa; Paulo Ricardo Gazzola Zen
Journal:  Rev Paul Pediatr       Date:  2017-05-15
  4 in total

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