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A new syndrome with camptodactyly, joint contractures, facial anomalies, and skeletal defects: a case report and review of syndromes with camptodactyly
Author(s) -
Rozin M. M.,
Hertz M.,
Goodman R. M.
Publication year - 1984
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.1399-0004.1984.tb01070.x
Subject(s) - camptodactyly , medicine , muscle contracture , anatomy
A new camptodactyly syndrome is described in a 16‐year‐old Sephardic Jewish girl consisting of unusual facies with multiple eye anomalies, short stature, scoliosis, and joint contractures. Parental consanguinity is suggestive of an autosomal recessive mode of inheritance, although a new autosomal dominant mutation cannot be excluded. Fourty‐four syndromes associated with camptodactyly are summarized and reviewed.