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Case Reports
. 2005 Dec 1;139A(2):127-30.
doi: 10.1002/ajmg.a.30988.

Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype

M A M van Steensel  1 , M Vreeburg, P M Steijlen, C de Die-Smulders
Affiliations
Case Reports

Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype

M A M van Steensel et al. Am J Med Genet A. .

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.

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