Article
Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype.
American journal of medical genetics. Part A - 1 Dec 2005
van Steensel M A M, Vreeburg M, Steijlen P M, de Die-Smulders C
Abstract excerpt
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...
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