title: Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype.
abstract: Myhre syndrome is a rare connective tissue disease characterized by nonprogressive stiffness of the large joints, short stature with a peculiar build, and a distinctive facial phenotype. Developmental delay is common. Three female patients have so far been described. Here, we report on a 16-year-old female with Myhre syndrome. She has vertebral defects, hypertrophic scar formation, and a stiff skin in addition to the features that have previously been reported in association with Myhre syndrome.
authors.affiliation: Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands. mvst@sder.azm.nl
authors.forename: M A M
authors.initials: MA
authors.lastname: van Steensel
authors.forename: M
authors.initials: M
authors.lastname: Vreeburg
authors.forename: P M
authors.initials: PM
authors.lastname: Steijlen
authors.forename: C
authors.initials: C
authors.lastname: de Die-Smulders
mesh_terms: D000005:Abdomen / Q000000981:diagnostic imaging; D001842:Bone and Bones / Q000000981:diagnostic imaging; D003240:Connective Tissue Diseases / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D004452:Echocardiography; D005260:Female; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D011859:Radiography; D013577:Syndrome