Primary hypothyroidism and osteopenia associated with Neuhauser syndrome

Anna Sarkozy, Rita Mingarelli, Francesco Brancati, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a patient affected by Neuhauser megalocornea-mental retardation (MMR) syndrome, presenting with most of the major manifestations of this disorder, in association with primary hypothyroidism and osteopenia. These symptoms, previously reported in single patients, could be discrete features of MMR syndrome.

Original languageEnglish
Pages (from-to)412-414
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume111
Issue number4
DOIs
Publication statusPublished - Sep 1 2002

Keywords

  • Hypothyroidism
  • Megalocornea-mental retardation
  • MMR
  • Neuhauser syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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