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J Med Genet 38:262-265 doi:10.1136/jmg.38.4.262
  • Letters to the editor

Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism

  1. DENISE HORN*,
  2. EDGAR RUPPRECHT,
  3. JÜRGEN KUNZE*§,
  4. JÜRGEN SPRANGER
  1. *Institute of Human Genetics, Virchow-Klinikum, Humboldt University, Augustenburger Platz 1, D-13353 Berlin Germany
  2. †Department of Tumour Genetics, Max-Delbrueck Centre (MDC) for Molecular Medicine, Berlin, Germany
  3. ‡Department of Paediatric Radiology, Technical University of Dresden, Germany
  4. §Department of Paediatrics, Virchow-Klinikum, Humboldt University, Berlin, Germany
  5. ¶J C Self Research Institute of Human Genetics, Greenwood, USA
  1. Dr Horn, denise.horn{at}charite.de

    Editor—The term spondylometaepiphyseal dysplasia (SMED) embraces a group of skeletal disorders characterised by abnormalities of the metaphyses, epiphyses, and vertebral bodies. The various entities which fall within this spectrum are differentiated on the basis of clinical and radiological anomalies. Following a recent report by Menger et al 1 of sibs with an unknown type of SMED, we wish to report the phenotype of two brothers affected with a similar pattern of clinical and skeletal anomalies. The designation anauxetic dysplasia (from the Greek term for not growing, not permitting growth) is proposed.

    The patients are the offspring of healthy, non-consanguineous German parents. The family history was unremarkable. The mother and father were both 22 years of age at the time of the first pregnancy.

    Patient 1, the proband, was born after an uneventful pregnancy at 40 weeks of gestation. His weight was 2400 g (−2.0 SD) and length 43 cm (−3.4 SD). Short limbs with short hands, short feet, and flexion contractures of the elbows were noted. His early psychomotor development was retarded. He sat without support at 12 months, began to walk at the age of 19 months, and used a few words at 24 months. At 12 months, kyphosis of the thoracic spine was noted.

    Examination at 38 months showed a height of 62 cm (−9.4 SD), weight of 6.5 kg (−5.2 SD), muscular hypotonia, and short limbs (fig 1). Additional findings included prognathism, small teeth, a large tongue, barrel chest, thoracic kyphosis, lumbar hyperlordosis, and limited extension of the elbows but marked laxity of the other joints. Radiographic findings at the age of 23 months are shown in fig2.

    Figure 1

    Front view of patient 1 at 23 months showing depressed …