Literature DB >> 10362079

Prader-Willi syndrome associated with fetal goiter: a case report.

R M Insoft1, J Hurvitz, E Estrella, K S Krishnamoorthy.   

Abstract

We describe a unique case of a newborn with Prader-Willi syndrome who presented with fetal goiter as well as neonatal thyroid abnormalities, marked hypotonia, and thrombocytopenia. These new clinical observations may correlate with the uniparental monodisomy form of inheritance of this genetic condition.

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Year:  1999        PMID： 10362079     DOI： 10.1055/s-2007-993832

Source DB:  PubMed          Journal:  Am J Perinatol        ISSN： 0735-1631            Impact factor:   1.862


  4 in total

Review 1.  Hypothyroidism in Prader-Willi syndrome: a case report and review of the literature.

Authors:  C Savopoulos; A Hatzitolios; P Panagopoulou; M Kosmidou; E Tsirogianni; V Konstantinou
Journal:  J Endocrinol Invest       Date:  2007-10       Impact factor: 4.256

Review 2.  Prader- Willi syndrome: An uptodate on endocrine and metabolic complications.

Authors:  Giovanna Muscogiuri; Gloria Formoso; Gabriella Pugliese; Rosaria Maddalena Ruggeri; Elisabetta Scarano; Annamaria Colao
Journal:  Rev Endocr Metab Disord       Date:  2019-06       Impact factor: 6.514

Review 3.  Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report.

Authors:  Sarah Bocchini; Danilo Fintini; Graziano Grugni; Arianna Boiani; Alessio Convertino; Antonino Crinò
Journal:  Ital J Pediatr       Date:  2017-09-22       Impact factor: 2.638

Review 4.  Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence.

Authors:  Eleni Magdalini Kyritsi; Christina Kanaka-Gantenbein
Journal:  Front Endocrinol (Lausanne)       Date:  2020-08-19       Impact factor: 5.555
  4 in total

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