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A new probably autosomal recessive cardiomelic dysplasia with mesoaxial hexadactyly
  1. R Martínez Y Martínez,
  2. E Corona-Rivera,
  3. M Jiménez-Martínez,
  4. R Ocampo-Campos,
  5. S García-Maravilla,
  6. J M Cantú
  1. 1División de Genética, Subjefatura de Investigación Cientifica, Unidad de Investigación Biomédicay Hospital de Pediatria, Centro Médico de Occidente, Instituto Mexicano del Seguro Social, Apartado Postal 1-3838, Guadalajara, Jalisco, Mexico.

    Abstract

    A distinct probably autosomal recessive syndrome was ascertained in a 17-year-old boy and his deceased sister. The main features were cardiac dysplasia, peculiar facies, central bilateral (mesoaxial) hexadactyly, synmetacarpalia, short stature, ocular torticollis, and delayed puberty.

    https://doi.org/10.1136/jmg.18.2.151

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