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The authors report on a patient with Chiari I malformation associated to Waardenburg phenotype, multiple malformations, osteochondrodysplasia and microdeletion of 1q21,1 chromosome, of which they underline the rarity. The pathogenesis connected to the features of neural crest cells-derived structures with mesodermal-derived tissues, mainly in the facial and boundary region of malformed posterior cranial fossa, is discussed. The authors hypothesize that chromosomal microdeletion, acting directly or on contiguous gene(s) or by long range control of gene expression, have modified the function of some developmental genes, causing consequently the association of symptoms observed in the patient. Introduction The association of Chiari I Malformation1(CMI) to other multiple malformations may express the complexity of the pathogenesis of these abnormalities.2Here we report a case presenting CMI in a context of multiple malformations, whose pathogenesis may be attributed to 1q21.1 chromosome microdeletion3-5as well as to Neural Crest (NC) and mesectodermal and mesodermal tissuederived6-8 derangement. Materials and Methods Haematological tests were carried out by common laboratory methods. Blood samples were obtained from the patient and DNA was extracted from lymphocytes by using standard

Chiari I malformation in a Waardenburg phenotype with multiple malformations and 1q21.1 microdeletion