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A distinct osteochondrodysplasia with hypertrichosis—Individualization of a probable autosomal recessive entity

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Summary

Two sibs and two other unrelated patients presented a distinct previously undescribed syndrome consisting of generalized congenital hypertrichosis, macrosomy at birth, narrow thorax, cardiomegaly, wide ribs, platyspondyly, hypoplastic ischiopubic branches, small obturator foramen, bilateral coxa valga, enlarged medullar canal, long bones shaped like an ‘Erlenmeyer flasks’ and generalized osteopenia. The family data suggest autosomal recessive inheritance.

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References

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Authors and Affiliations

  1. División de Genética, Subjefatura de Investigación Científica, Unidad de Investigación Biomédica y Hospital de Especialidades, Centro Médico de Occidente, Instituto Mexicano del Seguro Social, Apartado Postal 1-3838, Jalisco, Guadalajara, Mexico

    J. M. Cantú, D. Garcia-Cruz, J. Sánchez-Corona, A. Hernández & Z. Nazará

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  1. J. M. Cantú
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  2. D. Garcia-Cruz
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  3. J. Sánchez-Corona
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  4. A. Hernández
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  5. Z. Nazará
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Cantú, J.M., Garcia-Cruz, D., Sánchez-Corona, J. et al. A distinct osteochondrodysplasia with hypertrichosis—Individualization of a probable autosomal recessive entity. Hum Genet 60, 36–41 (1982). https://doi.org/10.1007/BF00281261

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  • DOI: https://doi.org/10.1007/BF00281261

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