[Hyaline juvenile fibromatosis: clinic, diagnostics, treatment]. / Gialinovyi yuvenil'nyi fibromatoz: klinika, diagnostika, lechenie.

Hyaline juvenile fibromatosis is a rare genetic disease, which is associated with ANTXR2 gene defect. Almost all organs and systems of the body are affected in this pathology. There are clinical symptoms: joint contracture, hyperpigmentation, skin damage like nodules, which can have different sizes, locations and forms, throughout the body, fibromatosis of the gums, internal organs damages (splenomegaly, hepatomegaly, anomalies of the kidneys and other organs), osteoporosis, increased susceptibility to infectious diseases, mental underdevelopment. In this article we describe clinical case of 6-old patient witht hyaline juvenile fibromatosis. The diagnosis was made on the basis of the clinical picture, additional research methods and the results of molecular genetic testing. The patient underwent a number of surgical interventions, histological examination of the surgical material and symptomatic therapy.

[A clinico-genetic analysis of functional temporomandibular joint lesions in children]. / Kliniko-geneticheskii analiz funktsional'nykh porazhenii visochno-nizhnecheliustnogo sustava u detei.

The authors review the results of a clinical genealogic investigation of 130 families with children suffering from abnormalities of the temporomandibular joints presenting as recurrent subluxations and/or arthrosis. A genetic statistic study, carried out by proband Weinberg's method in sibs families, has lead the authors to a conclusion on the monogenic autosomal dominant type of inheriting the temporomandibular joint abnormalities. A high incidence of diseases due to connective tissue failure in the body (lower limb varicose veins, spinal deformations, platypodia, hernias, hemorrhoids, etc.) in the families with children suffering from temporomandibular joint abnormalities has permitted the authors regard recurrent subluxations and/or arthrosis of the temporomandibular joints as a component of the total involvement of the connective tissue.

[The antioxidant status of children with congenital cleft lip and (or) palate]. / Antioksidantnyi status detei s vrozhdennymi rasshchelinami guby i (ili) neba.

Lipid peroxidation (LPO) parameters, Schiff's bases and diene conjugates (DC), as well as endogenous antioxidant system parameters, blood serum alpha-tocopherol were examined in 22 children with cleft lips and/or palates and their parents. DC LPO processes were found intensified in both children and their parents. Various DC levels were detected in probands: normal in 4 and significantly elevated (p less than 0.001) in 18 children. A group of children with intensified LPO processes and a reduced level of endogenous antioxidant activity was distinguished, that appears to be a risk group in respect of postoperative complications and therefore is in need of adequate preoperative antioxidant correcting therapy.