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Characteristic phenotype in congenital nephrotic syndrome

  • Nephrology/Urology
  • Original Paper
  • Published:
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Abstract

We present three children with congenital nephrotic syndrome and previously undescribed facial features. These include: (1) small mouth (intercommissural distance mouth (intercommissural distance <3rd percentile); (2) tented upper lip; (3) small nose (interalar distance −2 SD below mean); (4) fullness of cheeks giving a ‘jowly’ appearance; (5) overhanging outer thirds of upper eyelids. These features may reflect prolonged tissue oedema and protein malnutrition in utero and early life.

Conclusion

Characteristic facial features in congenital nephrotic syndrome may reflect intra-uterine malnutrition.

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References

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Authors and Affiliations

  1. The Children's Hospital, Lady wood Middleway, Ladywood, B16 8ET, Birmingham, UK

    T. G. Barrett, C. M. Taylor & D. V. Milford

  2. Department of Clinical Genetics, Birmingham Maternity Hospital, Edgbaston, B15 2TG, Birmingham, UK

    T. G. Barrett

Authors
  1. T. G. Barrett
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  2. C. M. Taylor
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  3. D. V. Milford
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Barrett, T.G., Taylor, C.M. & Milford, D.V. Characteristic phenotype in congenital nephrotic syndrome. Eur J Pediatr 154, 239–240 (1995). https://doi.org/10.1007/BF01954281

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  • DOI: https://doi.org/10.1007/BF01954281

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