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Lowry's syndrome

Related people

A disorder marked by extreme craniosynostosis involving both coronal and sagittal sutures, and bilateral fibular aplasia.

Description

A disorder marked by extreme craniosynostosis involving both coronal and sagittal sutures, and bilateral fibular aplasia. Long list of features. Autosomal recessive inheritance is suspected. Lowry in 1972 defined the disease picture based on observations of two brothers of consanguinous parents.

Bibliography

  • R. B. Lowry:
    Congenital absence of the fibula and craniosynostosis in sibs.
    Journal of Medical Genetics, London, 1972, 9: 227-229.
  • R. B. Lowry:
    Absent fibula and craniosynostosis: a 25 year follow up. (Letter).
    Journal of Medical Genetics, 1993, 30: 445-446.

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