Research Article

Osteopathia striata cranial sclerosis: Non-random X-inactivation suggestive of X-linked dominant inheritance

  1. Géraldine Viot1,*,
  2. Didier Lacombe2,
  3. Albert David3,
  4. Michèle Mathieu4,
  5. Alain de Broca4,
  6. Laurence Faivre1,
  7. Nadine Gigarel1,
  8. Arnold Munnich1,
  9. Stanislas Lyonnet1,
  10. Martine Le Merrer1,
  11. Valérie Cormier-Daire1

Article first published online: 5 DEC 2002

DOI: 10.1002/ajmg.10028

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 107, Issue 1, pages 1–4, 1 January 2002

Additional Information

How to Cite

Viot, G., Lacombe, D., David, A., Mathieu, M., de Broca, A., Faivre, L., Gigarel, N., Munnich, A., Lyonnet, S., Le Merrer, M. and Cormier-Daire, V. (2002), Osteopathia striata cranial sclerosis: Non-random X-inactivation suggestive of X-linked dominant inheritance. Am. J. Med. Genet., 107: 1–4. doi: 10.1002/ajmg.10028

Author Information

  1. 1

    Department of Genetics, Hôpital Necker-Enfants Malades, Paris, France

  2. 2

    Service of Genetics, Hôpital Pellegrain, Bordeaux, France

  3. 3

    Service of Genetics, Hôpital Nantes, France

  4. 4

    Service of Genetics, Hôpital Amiens, France

*Département de Génétique, Hôpital Necker, 149 rue de Sèvres, 75015 Paris, France.

Publication History

  1. Issue published online: 5 DEC 2002
  2. Article first published online: 5 DEC 2002
  3. Manuscript Accepted: 27 JUL 2001
  4. Manuscript Received: 5 JUL 2000

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Keywords:

  • osteopathia striata;
  • cranial sclerosis;
  • X-linked inheritance;
  • Hirschsprung disease;
  • coronal craniostenosis

Abstract

Osteopathia striata with cranial sclerosis (OS-CS) is a rare syndrome comprising macrocephaly, minor anomalies, conductive hearing loss, and mild mental retardation. The diagnosis is based on radiological findings, including cranial sclerosis and longitudinal striations of metaphyses of long bones. Here we report on 10 new cases of OS-CS, including two sporadic cases and three families, with an excess of affected females (9F/1M). Phenotypic variability was observed in our patients as well as several unusual findings. Hirschsprung disease, Pierre Robin sequence, coronal craniostenosis, and laryngotracheomalacia were associated with a poor prognosis. The X-inactivation pattern of peripheral blood lymphocytes in a mildly affected mother and her severely affected boy demonstrated a non-random X-inactivation in the mother. This finding, in combination with a sex ratio in favor of females and an increased morbidity and mortality in males, is highly suggestive of X-linked dominant inheritance. © 2001 Wiley-Liss, Inc.

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