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Coffin-Lowry syndrome

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Abstract

The Coffin-Lowry syndrome is an established syndrome of severe mental and growth retardation, characteristic dysmorphic features and skeletal anomalies. The authors report a one and half year old boy with classical features of this syndrome. Early recognition of this condition is important for genetic counseling and prevention of progressive skeletal deformities.

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References

  1. Jones KL.Smith ’s Recognizable Patterns of Human Malformation. Philadelphia; W.B. Saunders, 1997; 274–277.

    Google Scholar 

  2. Coffin GS, Siris E, Calif E, Wegienka LC. Mental retardation with osteocartilaginous anomalies.Am J Dis Child 1966; 112: 205–213.

    Google Scholar 

  3. Lowry B, Miller JR, Fraser FC. A new dominant gene mental retardation syndrome.Am J Dis Child 1971; 121: 496–500.

    PubMed  CAS  Google Scholar 

  4. Temtamy SA, Miller JD, Dorst JPet al. The Coffin-Lowry syndrome. A simply inherited trait comprising mentai retardation, facio-digital anomalies and skeletal involvement.Birth Defects: Original article series 1975; 6 :133–152.

    Google Scholar 

  5. Hunter AGW, Partington MW, Evans JA. The Coffin-Lowry syndrome. Experience from four centres.Clin Genet 1982; 21: 321–335.

    Article  PubMed  CAS  Google Scholar 

  6. Caraballo R, Tesi Rocha A, Medina C, Fejerman N. Drop episodes in Coffin-Lowry syndrome: an unusual type of startle response.Epileptic Disord 2000; 2 :173–176.

    PubMed  CAS  Google Scholar 

  7. Massin MM, Radermecker MA, Verloes A, Jacquot S, Grenade T. Cardiac involvement in Coffin-Lowry syndrome.Acta Paediatr 1999; 88:468–470.

    Article  PubMed  CAS  Google Scholar 

  8. Delaunoy J, Abidi F, Zeniou Met al. Mutations in the X-linked RSK2 gene (RPS6KAS) in patients with Coffin-Lowry syndrome.Hum Mutat 2001; 17:103–116.

    Article  PubMed  CAS  Google Scholar 

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Correspondence to Sanjeev R. Ahuja.

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Ahuja, S.R., Upadhye, S., Kulkarni, H.V. et al. Coffin-Lowry syndrome. Indian J Pediatr 70, 1001–1002 (2003). https://doi.org/10.1007/BF02723830

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  • DOI: https://doi.org/10.1007/BF02723830

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