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X-Chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of “Paine syndrome”?

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Summary

Two brothers (7 years of age and 8 months respectively) are reported. They both suffered from a combination of severe microcephaly, spastic tetraplegia, clonic epileptic fits, absent abdominal cutaneous reflexes and severe mental retardation. This syndrome shows an X-chromosomal mode of inheritance. Dermatoglyphic patterns were characteristic. There was no change in aminoacids in CSF and the birth weight was high (4000g, in contrast to the cases described by Warkany et al.).

Zusammenfassung

Es wird über zwei Brüder (7 Jahre bzw. 8 Monate alt) berichtet. Beide litten an einer Kombination von schwerer Mikrocephalie, spastischer Tetraplegie, klonischen epileptischen Anfällen, fehlenden abdominalen Hautreflexen und schwerem Schwachsinn. Es fand sich ein X-chromosomaler Erbgang. Die Dermatoglyphen zeigten einen charakteristischen Befund. Die Aminosäuren waren im Liquor cerebrospinalis nicht verändert, und das Geburtsgewicht war hoch im Gegensatz zu den Fällen von Warkany et al.

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References

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Authors and Affiliations

  1. Laboratory for Genetics, University Children's Hospital Motol, Prague

    E. Seemanová, I. Lesný, J. Hyánek, K. Brachfeld, M. Rössler & M. Prošková

  2. Department for Paediatric Neurology, University Children's Hospital Motol, Prague

    E. Seemanová, I. Lesný, J. Hyánek, K. Brachfeld, M. Rössler & M. Prošková

  3. Department for clinical biochemistry, Charles University, Prague

    E. Seemanová, I. Lesný, J. Hyánek, K. Brachfeld, M. Rössler & M. Prošková

Authors
  1. E. Seemanová
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  2. I. Lesný
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  3. J. Hyánek
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  4. K. Brachfeld
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  5. M. Rössler
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  6. M. Prošková
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Seemanová, E., Lesný, I., Hyánek, J. et al. X-Chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of “Paine syndrome”?. Humangenetik 20, 113–117 (1973). https://doi.org/10.1007/BF00284845

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  • DOI: https://doi.org/10.1007/BF00284845

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