Stüve-Wiedemann syndrome

A rare disorder characterized by bowing of the long bones, short stature, camptodactyly, respiratory distress, episodes of unexplained hyperthermia, growth and mental retardation. Most patients die in infancy and childhood. Recurrent episodes of unexplained fever is the cause of death in almost all cases. A familial disorder inherited as an autosomal recessive trait. Parental consanguinity in many cases.

• A. Stüve, H. R. Wiedemann:
  Angeborene Verbiegungen langer Röhrenknochen--eine Geschwisterbeobachtung.
  Zeitschrift für Kinderheilkunde, 1971, 111:184-92
• A. Stüve, H. R. Wiedemann:
  Congenital Bowing of the long bones in two sisters. (Letter).
  Lancet, 1971, 2:495
• J. Spranger, P. Maroteaux:
  Stüve-Wiedemann syndrome.
  Human Genetics, Berlin, 1990, 19: 73
• H. J. Philippe, et al:
  Conduite à tenir devant la découverte échongraphique d'un fémur court in utero. Apropos d'un diagnostic anténatal de syndrome de Stüve-Wiedemann.
  Journal de gynecologie, obstétrique et biologie de la reproduction, Paris, 1993, 22: 269-274.
• H. R. Wiedemann, A. Stüve:
  Stüve-Wiedemann syndrome: Update and historical footnote.
  American Journal of Medical Genetics, New York, 1996, 63: 12-16.
• K. Kozlowski, R. Tenconi:
  Stüve-Wiedemann dysplasia in a 3 1/2-old boy.
  American Journal of Medical Genetics, New York, 1996, 63: 17-9
• B. Chabrol, et al:
  Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain.
  American Journal of Medical Genetics, New York, 1997, 72: 222-226.
• Maroteaux, Martine Le Merrer: B. Chabrol, S. Sigaudy, V. Paquis, M. F. Montfort, H. Giudicelli, J. F. Pellissier, V. Millet, J. Mancini J, N. Philip:
  Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain.
  American Journal of Medical Genetics, New York, 1997, 72: 22-6.
• Valérie Cormier-Daire, A. Munnich, Stanislas Lyonnet, Pierre Rustin, Anne-Lise Delezoide, Pierre Maroteaux, Martine Le Merrer:
  Presentation of six cases of Stüve-Wiedemann syndrome.
  Pediatric Radiology, Berlin, 1998, Volume 28 Issue 10, pp 776-780.
• S. Sigaudy, A. Moncla, C. Fredouille, B. Bourlière, J. C. Lambert, N. Philippe:
  Congenital bowing of the long bones in two fetuses presenting features of Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2.
  Clinical Dysmorphology, 1998, 7: 1-6. (ou 257-262)
• V. Cormier-Daire, A. Superti-Furga, A. Munnich, S. Lyonnet, P. Rustin, A.L. Delezoide, P. De Lonlay, A. Giedion, P. Maroteaux, M. Le Merrer:
  Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.
  American Journal of Medical Genetics, New York, 1998, 78, Issue 2, pp 146-149.