Primary hypothyroidism and osteopenia associated with Neuhauser syndrome.

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.

• Authors: Anna Sarkozy, Rita Mingarelli, Francesco Brancati, Bruno Dallapiccola
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 111 Issue 4 Pg. 412-4 (Sep 01 2002) ISSN: 0148-7299 [Print] United States
• PMID: 12210302 (Publication Type: Journal Article)
• Copyright: Copyright 2002 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (genetics)
• Bone Diseases, Metabolic (genetics)
• Female
• Humans
• Hypercholesterolemia (genetics)
• Hypothyroidism (genetics)
• Infant
• Intellectual Disability (genetics)