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The Wrinkly Skin Syndrome: A new heritable disorder of connective tissue
Author(s) -
Gazit E.,
Goodman R. M.,
BatMiriam M.,
Rotem Y.
Publication year - 1973
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1973.tb01141.x
Subject(s) - connective tissue , connective tissue disorder , genetic disorder , pathology , connective tissue disease , medicine , biology , anatomy , disease , autoimmune disease
A new heritable disorder of connective tissue called the Wrinkly Skin Syndrome is described, This syndrome appears to be transmitted as an autosomal recessive disorder. Clinically it is characterized by the appearance at birth of wrinkled skin about the hands and feet together with an increase in the number of creases on the ventral surfaces. Other altered connective tissue manifestations are present. A discussion is given which distinguishes the clinical and genetic features of this syndrome from those found in similar known heritable disorders of connective tissue.