Guadalajara camptodactyly syndrome type I: report on a new case

Abstract

We report a Brazilian female patient with a thin and long face, blepharophimosis, minor auricular anomalies, camptodactyly and thoracic and spinal anomalies. The constellation of clinical signs present in this patient is consistent with the diagnosis of Guadalajara camptodactyly syndrome type I. Clinical and genetic aspects concerning this condition are discussed.