title: [Evaluation of pathogenesis of encephalocele, high spina bifida and congenital clubfoot not forming part of any known syndrome: a case report].
abstract: The authors report the case, non forming part of any known syndrome, of a newborn with encephalocele, high cranial schisis, ocular anomalies, cleft palate and congenital clubfoot. The photographic documentation of the malformations is not possible due to a technical error in taking the photographs (lack of light in the room). Alterations to cerebral nervous tissue were histologically and cytologically characterised by immaturity and block of normal development during the early stages. For this reason the alteration of primary neuro-ectodermal tissue appears to be the initial factor with secondary involvement of anatomically and functionally contiguous fields and tissues, such as cranial bones and the eyes. The alteration of the nervous system resulted in the incapacity of the fetus to make fetal movements, making it vulnerable to extrinsic compression, above all uterine pressure. This led to the adoption of fixed postures with articular blockage most evident in the lower limbs (congenital clubfoot). The pathogenic noxa was not identified.
authors.affiliation: Divisione di Pediatria, Sezione di Neonatologia, USSL 61, Carate Brianzo, Milano.
authors.forename: P
authors.initials: P
authors.lastname: Colombo
authors.forename: G A
authors.initials: GA
authors.lastname: Bianchi
authors.forename: V
authors.initials: V
authors.lastname: Meregalli
mesh_terms: D000757:Anencephaly / Q000150:complications*; D003025:Clubfoot / Q000150:complications*; D004677:Encephalocele / Q000150:complications*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D016135:Spinal Dysraphism / Q000150:complications*; D013577:Syndrome
vernacular_title: Valutazioni patogenetiche circa un caso di encefalocele, rachischisi alta e piede torto congenito non inquadrabile in sindrome nota.