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Journal List > J Med Genet > v.32(1); Jan 1995

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J Med Genet. 1995 January; 32(1): 72–74.
PMCID: PMC1050185
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An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).
A Giannotti, M C Digilio, R Mingarelli, and B Dallapiccola
Department of Medical Genetics, Bambino Gesù Hospital, IRCCS, Salita S Onofrio 4, Rome, Italy.
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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Selected References
These references are in PubMed. This may not be the complete list of references from this article.
  • Rodini ES, Richieri-Costa A. EEC syndrome: report on 20 new patients, clinical and genetic considerations. Am J Med Genet. 1990 Sep;37(1):42–53. [PubMed]
  • Rodini ES, Freitas JA, Richieri-Costa A. Ectrodactyly, cleft lip/palate syndrome. Am J Med Genet. 1991 Mar 15;38(4):539–541. [PubMed]
  • Malpuech G, Demeocq F, Palcoux JB, Vanlieferinghen P. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies. Am J Med Genet. 1983 Dec;16(4):475–480. [PubMed]
  • Greenberg F, Gresik MV, Carpenter RJ, Law SW, Hoffman LP, Ledbetter DH. The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect. Am J Med Genet. 1987 Jan;26(1):59–64. [PubMed]
  • Atkin JF, Patil S. Apparently new oculo-cerebro-acral syndrome. Am J Med Genet. 1984 Nov;19(3):585–587. [PubMed]
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