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Smith-Magenis syndrome and growth hormone deficiency

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Abstract

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome including physical and neurobehavioural features. The disease is commonly associated with a ca. 3.7 Mb interstitial deletion of chromosome 17p11.2, while a 1.1 Mb critical region has been identified, containing about 20 genes expressed in multiple tissues. Haploinsufficiency of one of them, RAI1, seems to be responsible for the neurobehavioural, craniofacial and otolaryngological features of the syndrome, but not for short stature, commonly seen in SMS patients with chromosome deletion, implying the role of other genes in the 17p11.2 region. Growth failure is a final result of several different mechanisms involving decreased growth hormone (GH) production, reduced tissue response to GH, or impaired activity of epistatic factors. To our knowledge, the association of GH deficiency with SMS has never been reported and rarely investigated, despite the very short stature of SMS patients. We describe a girl with a full SMS phenotype and a typical 3.7 Mb deletion of 17p11.2 who also has GH deficiency. After starting replacement therapy, growth has significantly improved, her stature being now above both the 10th percentile and her genetic target. Conclusion:we suggest that an investigation of both growth hormone secretion and function is carried out in patients with Smith-Magenis syndrome and 17p11.2 deletion.

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Abbreviations

FISH :

fluorescent in situ hybridisation

GH :

growth hormone

SMS :

Smith-Magenis syndrome

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Acknowledgements

The technical assistance of Annamaria Lanfranchi and Mario Battini is acknowledged.

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Authors and Affiliations

  1. Biologia Generale e Genetica Medica, University of Pavia, Via Forlanini 14, 27100 , Pavia, Italy

    Emanuela Spadoni, Cesare Danesino & Paola Maraschio

  2. Dipartimento di Biologia e Genetica per le Scienze Mediche, University of Milano, Milan, Italy

    Patrizia Colapietro & Lidia Larizza

  3. Dipartimento di Scienze Pediatriche, University of Pavia, IRCCS San Matteo, Pavia, Italy

    Mauro Bozzola & Gian L. Marseglia

  4. U.O. di Neuropsichiatria dell’Infanzia e Adolescenza, Azienda Ospedaliera, Pavia, Italy

    Luciana Repossi

  5. Servizio di Consulenza Genetica, IRCCS San Matteo, Pavia, Italy

    Cesare Danesino

  6. Servizio Citogenetica Postnatale, IRCCS San Matteo, Pavia, Italy

    Paola Maraschio

Authors
  1. Emanuela Spadoni
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  2. Patrizia Colapietro
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  3. Mauro Bozzola
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  4. Gian L. Marseglia
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  5. Luciana Repossi
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  6. Cesare Danesino
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  7. Lidia Larizza
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  8. Paola Maraschio
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Correspondence to Paola Maraschio.

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Spadoni, E., Colapietro, P., Bozzola, M. et al. Smith-Magenis syndrome and growth hormone deficiency. Eur J Pediatr 163, 353–358 (2004). https://doi.org/10.1007/s00431-004-1460-7

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  • DOI: https://doi.org/10.1007/s00431-004-1460-7

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