Endocrine Abstracts

Introduction: Melnick Needles Syndrome corresponds to a rare skeletal dysplasia of genetic etiology, with dominant inheritance pattern attached to the X chromosome. Mutations related to the gene of filamina A, which is responsible for the synthesis of collagen, are responsible for the clinical and phenotypic manifestations of the disease, with predominantly female involvement. Rickets are caused by inadequate mineralization of the bone, which precedes the closure of the epiphy...