Stüve-Wiedemann syndrome in children surviving infancy: Clinical and radiological features

L. I. Al-Gazali, A. Ravenscroft, A. Feng, A. Shubbar, A. Al-Saggaf, D. Haas

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39 Citations (Scopus)


We report three children from two inbred Arab families with Stüve-Wiedemann syndrome who have survived the first year of life (ages are 6 years, 2.8 years and 2 years). All exhibited a characteristic phenotype resembling that described by Chen et al. [(2001). Am J Med Genet 101:240-245]. In all three children the skeletal abnormalities progressed to severe bowing of the long bones with prominent joints and severe spinal deformity. Neurological symptoms were present in all of them. These included temperature instability with excessive sweating, reduced pain sensation with repeated injury to the tongue and limbs, absent corneal reflexes and a smooth tongue. Mentality was normal in all of them. Radiological changes included under tubulation of the diaphyses, rarefaction and striation of metaphyses, destruction of the femoral heads and spinal deformity. We confirm that survival in this syndrome is possible and that the prognosis improves after the first year of life. This should be taken into consideration when counselling parents of affected children. This report further supports the existence of a characteristic phenotype in Stüve-Wiedemann syndrome survivors which include, in addition to the skeletal abnormalities and distinctive radiological features, neurological symptoms reminiscent of dysautonomia.

Original languageEnglish
Pages (from-to)1-8
Number of pages8
JournalClinical Dysmorphology
Issue number1
Publication statusPublished - Jan 2003


  • Bowing of long bones
  • Reduced pain sensation
  • Spinal deformity
  • Stüve-Wiedemann syndrome
  • Temperature instability

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)


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