Nanismo degenerativo tipo di Amsterdam (Typus Amstelodamensis – Malattia di Cornelia De Lange). Presentazione di un caso e considerazioni di ordine genetico

Abstract

SUMMARYThe authors describe a new case of degenerative nanism « typus amstelodamensis », which shows all fundamental characteristics of the syndrome. From the hormonic research, which was carried through for the first time, resulted normal values (for the age of patient); this fact proves the fundamental normality of the endocrine system, which was already found by De Lange in the anatomical-pathological field.Moreover, the genealogical examination led for the first time to the assumption of the existence of a genetic factor causing this particular type of a multiple degeneration.