Primary hypothyroidism and osteopenia associated with Neuhauser syndrome.
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.
Sarkozy
Anna
A
Department of Molecular Medicine and Pathology, University La Sapienza, Rome, Italy.
Mingarelli
Rita
R
Brancati
Francesco
F
Dallapiccola
Bruno
B
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