title: 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.affiliation: Department of Molecular Medicine and Pathology, University La Sapienza, Rome, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Sarkozy
authors.forename: Rita
authors.initials: R
authors.lastname: Mingarelli
authors.forename: Francesco
authors.initials: F
authors.lastname: Brancati
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001851:Bone Diseases, Metabolic / Q000235:genetics*; D005260:Female; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics; D007037:Hypothyroidism / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics