title: A case of nail-patella syndrome associated with thyrotoxicosis.
abstract: Nail-patella syndrome, also known as hereditary onycho-osteodystrophy, is a rare autosomal dominant disorder with pleiotropic phenotypic expression.The present report is of a nail-patella syndrome patient, a 26-year-old female, admitted to our NeuroMuscular Rehabilitation Clinic Division for neurological symptoms, secondary to a severe spondylolysthesis with bilateral L5 pedicle fracture. During hospitalization, she was also diagnosed with mild thyrotoxicosis, but interestingly enough, the bone mineral density, assessed at multiple sites, was quasi-normal.
authors.affiliation: Gr T Popa University of Medicine and Pharmacy, Iasi, Romania. monicaharas@gmail.com
authors.forename: B
authors.initials: B
authors.lastname: Haras
authors.forename: F
authors.initials: F
authors.lastname: Vulpoi
authors.forename: Gh
authors.initials: G
authors.lastname: Onose
mesh_terms: D015502:Absorptiometry, Photon; D000328:Adult; D015992:Body Mass Index; D015519:Bone Density; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D060850:LIM-Homeodomain Proteins / Q000235:genetics*; D008159:Lumbar Vertebrae / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics; D009261:Nail-Patella Syndrome / Q000150:complications* / Q000235:genetics* / Q000473:pathology*; D013168:Spondylolisthesis / Q000473:pathology*; D013971:Thyrotoxicosis / Q000150:complications* / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C112149:LIM homeobox transcription factor 1 beta; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors