[Registry of genetic and malformative diseases in the province of Macerata]. / Registro delle malattie genetiche e malformative della provincia di Macerata.

OBJECTIVES: The aim of this epidemiological research is to evaluate the prevalence of genetic diseases and malformative syndromes in paediatric population living in the Macerata county. MATERIAL AND METHODS: All the data were collected through a careful analysis of a specific questionnaire sent to all the family paediatricians. RESULTS: 23,379 children living in Macerata county, aged 0 to 9 years, were evaluated (93.8% of all this paediatric population). Among those were found N 400 cases of genetic diseases and malformative syndromes: Malformations Tot.N. 255 cases (63.3% of the reported cases); Malformative Syndromes Tot. N. 55 cases (27.8% of the reported cases); Endocrinology and Metabolic Diseases Tot. N. 41 cases (10.3% of the reported cases); Osteochondrodysplasia Tot. N. 22 cases (5.7% of the reported cases); Other Tot. N. 28 cases (7.0% of the reported cases); Male population was found more affected than female: M/F ratio = 1.4. The analysis of the data showed an increasing trend in detecting these pathological conditions, consistent with the increase in geographic altitude (3 areas considered): 0-100 meter = 0.88%; 100-600 m.a.s. = 1.34%; over 600 m.a.s. = 1.88%. CONCLUSION: The knowledge of the number of children affected by genetic and malformative diseases in the Macerata county is relevant in order to establish a Genetic Service with the aim to better support the medical assistance of these patients and counselling service for the families.

[The therapy of malformation syndromes]. / La terapia nelle sindromi malformative.

The therapeutic possibilities in malformative syndromes are basically surgical, rehabilitative and, in a few cases, pharmacologic. The possibilities of using drugs are limited to some hormonal disorders caused by diencephalic and hypophyseal dysfunctions with clinical signs appearing at the level of the various target organs. The clinical signs most commonly found are hypogonadism, short stature and obesity. The Authors discuss on the opportunity of the use of the growth hormone in syndromic patients with short stature.

[Fryns syndrome. Description of a case]. / Sindrome di Fryns. Descrizione di un caso.

We report on a female infant who presents a pattern of malformations including dysmorphic facies, Dandy-Walker anomaly, hypoplasia of the upper lobe of the right lung, associated with diaphragmatic elevation and slight digital anomalies. This whole clinical picture allows us to formulate the diagnosis of Fryns syndrome; this is one of the very few not lethal cases that are reported in literature.