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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- Atkin J. F., Patil S. Apparently new oculo-cerebro-acral syndrome. Am J Med Genet. 1984 Nov;19(3):585–587. doi: 10.1002/ajmg.1320190322. [DOI] [PubMed] [Google Scholar]
- Greenberg F., Gresik M. V., Carpenter R. J., Law S. W., Hoffman L. P., Ledbetter D. H. 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. doi: 10.1002/ajmg.1320260111. [DOI] [PubMed] [Google Scholar]
- Malpuech G., Demeocq F., Palcoux J. B., 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. doi: 10.1002/ajmg.1320160405. [DOI] [PubMed] [Google Scholar]
- Rodini E. S., Freitas J. A., Richieri-Costa A. Ectrodactyly, cleft lip/palate syndrome. Am J Med Genet. 1991 Mar 15;38(4):539–541. doi: 10.1002/ajmg.1320380408. [DOI] [PubMed] [Google Scholar]
- Rodini E. S., Richieri-Costa A. EEC syndrome: report on 20 new patients, clinical and genetic considerations. Am J Med Genet. 1990 Sep;37(1):42–53. doi: 10.1002/ajmg.1320370112. [DOI] [PubMed] [Google Scholar]