Hallermann-Streiff syndrome: a case report from Georgia.

We report a 9 years and 6 month old boy with the Hallermann-Streiff syndrome (HSS). The patient was referred by a pediatrician. The diagnosis was established by endocrinologist based on the presence of specific facial gestalt (bird-like face) and bilateral congenital cataracts.

Management options for rare diseases in children and adolescents in Georgia (experience of the country with transitional economy).

We present the results of our research and organizational work aimed at the management optimization for the rare diseases in Georgia (the Country with Transitional Economy). We compiled a list of the rare diseases actual for Georgia; elaborated algorythms and expert systems supporting the diagnosis making process for various clusters of the rare diseases; translated into Georgian and adapted textual materials regarding the management of various rare disorders; assessed the awareness level for the rare diseases of the pediatricians and general practioners in Georgia and attempted to raise it by organizing seminars and conferences, including international ones, in various regions of Georgia; elaborated a model of the expert system (based on the fuzzy logic principles) for unmasking the cases suspicious for the rare disease; laid the foundation for the national register of the rare diseases in children and adolescents; elaborated the module for post-graduate education regarding rare diseases; organized the center for the rare diseases.

Expert diagnosis in tall stature: edits 1.1 diagnostic software efficacy.

EDITS (Expert Diagnosis In Tall Stature) expert system version 1.1 was evaluated by making it diagnose sets of clinical and laboratory criteria published as case reports in medical scientific literature, and analyzing the results obtained. The case reports were selected by means of the PubMed database.

An expert system for differential diagnosis of tall stature syndrome.

There was created medical expert system for differential diagnosis of disorders and diseases manifested by tall stature. They were selected based on the information provided by two major computer databases, LDDB [London Dysmorphology Database] and Orphanet. Clinical signs, i.