Primary hypothyroidism and osteopenia associated with Neuhauser syndrome

Anna Sarkozy; Rita Mingarelli; Francesco Brancati; Bruno Dallapiccola

doi:10.1002/ajmg.10577

Primary hypothyroidism and osteopenia associated with Neuhauser syndrome

Am J Med Genet. 2002 Sep 1;111(4):412-4. doi: 10.1002/ajmg.10577.

Authors

Anna Sarkozy¹, Rita Mingarelli, Francesco Brancati, Bruno Dallapiccola

Affiliation

¹ Department of Molecular Medicine and Pathology, University La Sapienza, Rome, Italy.

PMID: 12210302
DOI: 10.1002/ajmg.10577

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.

MeSH terms

Abnormalities, Multiple / genetics*
Bone Diseases, Metabolic / genetics*
Female
Humans
Hypercholesterolemia / genetics
Hypothyroidism / genetics*
Infant
Intellectual Disability / genetics