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Research Article
An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).
  1. A Giannotti,
  2. M C Digilio,
  3. R Mingarelli,
  4. B Dallapiccola
  1. 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.

    https://doi.org/10.1136/jmg.32.1.72

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