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Myhre syndrome in a female with previously undescribed symptoms: Further delineation of the phenotype
Author(s) -
van Steensel M.A.M.,
Vreeburg M.,
Steijlen P.M.,
de DieSmulders C.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30988
Subject(s) - phenotype , medicine , biology , genetics , gene
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. © 2005 Wiley‐Liss, Inc.