Literature DB >> 3062757

Leprechaunism: report of two cases and review.

D Ioan1, L Dumitriu, V Belengeanu, M Bistriceanu, C Maximilian.   

Abstract

Two new cases of leprechaunism are reported, one of which from consanguinous parents. Both cases show the clinical picture characteristic of this syndrome: severe pre- and postnatal growth failure, psychic backwardness, lack of adipose tissue, cutis laxa; elf-like face, large ears, globular eyes, hypertelorism, micrognathia and various degrees of external genitalia hypertrophy. Endocrinologically, one of the patients shows the syndrome of low T3. The role of the endocrine alterations in the etiology of the syndrome is discussed.

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Mesh:

Year:  1988        PMID: 3062757

Source DB:  PubMed          Journal:  Endocrinologie        ISSN: 0253-1801


  3 in total

1.  Severe insulin resistance alters metabolism in mesenchymal progenitor cells.

Authors:  Bharti Balhara; Alison Burkart; Vehap Topcu; Youn-Kyoung Lee; Chad Cowan; C Ronald Kahn; Mary-Elizabeth Patti
Journal:  Endocrinology       Date:  2015-03-26       Impact factor: 4.736

2.  A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents.

Authors:  L I al-Gazali; M Khalil; K Devadas
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

Review 3.  Potential therapeutic approaches for modulating expression and accumulation of defective lamin A in laminopathies and age-related diseases.

Authors:  Alex Zhavoronkov; Zeljka Smit-McBride; Kieran J Guinan; Maria Litovchenko; Alexey Moskalev
Journal:  J Mol Med (Berl)       Date:  2012-10-23       Impact factor: 4.599

  3 in total

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