Connective Tissue Dysplasia In Children Research Articles

Диагностика наследственных синдромов дисплазии соединительной ткани у детей: лекция

Наследственные синдромы дисплазии соединительной ткани составляют большую группу патологий, в которую входят около 50 заболеваний и их типов. Синдромы, как правило, имеют мультисистемные проявления, и пациенты требуют наблюдения команды специалистов. Такие заболевания, как несовершенное костеобразование и буллезный эпидермолиз, отличаются характерным фенотипом, но при других нозологических формах моногенных болезней соединительной ткани отмечается много общих проявлений, что обусловливает диагностические трудности. Цель лекции – подчеркнуть сходство клинической картины и выделить различия фенотипа отдельных синдромов дисплазии соединительной ткани. В отделении врожденных и наследственных заболеваний Института Ю.Е. Вельтищева в 2022 г. были обследованы 202 ребенка с моногенными дисплазиями соединительной ткани, среди них с несовершенным костеобразованием – 78, синдромом Элерса – Данло – 59, синдромом Марфана – 53, синдромами Стиклера и Лоеца – Дитца – по 4, синдромом Билса – 3 и cutis laxa – 1. При установлении диагноза оценивали клинический фенотип, принимали во внимание наличие/отсутствие кардинальных признаков того или иного синдрома, учитывали генетические данные. Обращено внимание на фенотипическое сходство синдромов Элерса – Данло, Марфана, Стиклера, Лоеца – Дитца, Билса, cutis laxa. Диагностические трудности также были связаны с манифестацией неполного симптомокомплекса в детском возрасте и с сочетанием двух синдромов дисплазии соединительной ткани у одного пациента. Подчеркнуто, что точная идентификация нозологической формы болезни достигается при проведении генетического тестирования. Hereditary syndromes of connective tissue dysplasia constitute a large group of pathologies, which includes about 50 diseases and their types. Syndromes, as a rule, have multisystem manifestations, and patients require the supervision of a team of specialists. Diseases such as osteogenesis imperfecta and epidermolysis bullosa are characterized by a characteristic phenotype, but in other nosological forms of monogenic connective tissue diseases, there are many common manifestations, which causes diagnostic difficulties. Purpose of the lecture – to emphasize the similarity of the clinical picture and highlight the differences in the phenotype of individual syndromes of connective tissue dysplasia. In the Department of Congenital and Hereditary Diseases of the Yu.E. Veltischev Institute 202 children with monogenic connective tissue dysplasia were examined in 2022, among them with osteogenesis imperfect – 78, Ehlers – Danlos syndrome – 59, Marfan syndrome – 53, Stickler and Loetz – Dietz syndromes – 4, Beals syndrome – 3 and cutis laxa – 1. When diagnosing, the clinical phenotype was evaluated, the presence/absence of cardinal signs of a particular syndrome and genetic data were taken into account. Attention is drawn to the phenotypic similarity of Ehlers – Danlo, Marfan, Stickler, Loetz – Dietz, Beals, cutis laxa syndromes. Diagnostic difficulties were also associated with the manifestation of an incomplete symptom complex in childhood and with a combination of two syndromes of connective tissue dysplasia in one patient. It is emphasized that the сorrect identification of the nosological form of the disease is achieved through genetic testing.

Structural features of the heart in children with arrhythmic syndrome due to nonspecific connective tissue disorder

Introduction. Connective tissue is highly organized system, its disorders are characterized by a pronounced polymorphism of morphological and clinical manifestations. The cardiovascular pathology in patients with nonspecific connective tissue disorder attracts attention due to the high risk of complications: rhythm and conduction disorders, infective endocarditis, vascular thromboembolism and sudden cardiac death. Therefore, it’s very important to use up-to-date equipment and methods of early diagnosis of a high risk of fatal events in young.Aim. To investigate the structural features of the heart and their relationship with the process of myocardial remodeling in children with arrhythmic syndrome and nonspecific connective tissue disorder.Materials and methods. Sixty-five children were examined, 40 of them had arrhythmic syndrome in combination with nonspecific connective tissue disorder, and 25 had only minimal manifestations of nonspecific connective tissue disorder without arrhythmic syndrome. Such up-to-date methods as assessment of myocardial remodeling and longitudinal strain, natriuretic peptide assessment were included in the diagnostic algorithm.Results and discussion. The study showed a variety of phenotypic and visceral markers of nonspecific connective tissue disorder in children with arrhythmic syndrome. Arrhythmic syndrome was manifested by monotopic and heterotopic heart rhythm disorders, and structural changes of the heart: mitral valve prolapse and myocardial wall thinning were correlated with a more frequent increase in natriuretic peptide. Speckle-tracking echocardiography showed a significant decrease in longitudinal myocardial strain with predominance of myocardial strain in the anterior basal segment in children with arrhythmic syndrome.Conclusion. Our study showed a variety of phenotypic and visceral markers of undifferentiated connective tissue dysplasia in children with arrhythmic syndrome. The data obtained require further mathematical analysis and the establishment of a possible relationship between the external manifestations of the disease and cardiac rhythm and conduction disturbances.

Bronchial obstruction syndrome in children with connective tissue dysplasia

A systematic analysis of the data available in modern literature concerning the problem of connective tissue dysplasia in children and adolescents, and the results of studying the course of bronchial obstruction syndrome in patients with this pathology, was carried out. Mechanisms of connective tissue dysplasia is imperfect, elucidation of the genetic causes of hereditary connective tissue disorders has not yet led to cardinal improvements in diagnosis, prevention and treatment. Connective tissue dysplasia is characterized by the presence of changes in the bronchopulmonary system: tracheobronchial dyskinesia (expiratory collapse of the trachea and large bronchi), tracheobronchomalacia and tracheobronchomegaly, apical bullae, confirmed by radiographic and spontaneous pneumothorax (more common in young men), the presence of thoracodiaphragmatic syndrome, which includes an asthenic form of the chest, deformities chest and / or spine, change in standing height and excursions of the diaphragm. The etiological and pathogenetic factors in the development of bronchiectasis remain ambiguous. Patients with connective tissue dysplasia require special attention and deeper study. The presence of thoracodiaphragmatic and bronchopulmonary syndrome in children contributes to a longer course of broncho-obstructive syndrome, a brighter, vegetative color of seizures is described. It is noted that these patients need more aggressive and long-term therapy.

FREQUENCY AND CLINICAL MANIFESTATIONS OF MITRAL VALVE PROLAPSE IN CHILDREN ASSOCIATED WITH PHENOTYPIC MANIFESTATIONS OF CONNECTIVE TISSUE DYSPLASIA

Abstract: As an expression of a generalized connective tissue defect, mitral valve prolapse (MVP) is often combined with other dysplastic changes that manifest themselves as a set of phenotypic signs of the body. The aim of this study was to identify the frequency and clinical manifestations of mitral valve prolapse in children associated with phenotypic manifestations of connective tissue dysplasia. In the course of the work, not only clinical, but also instrumental methods were used to study 60 children with a verified diagnosis of mitral valve prolapse who are being treated in the department of cardiorheumatology of the Andijan regional Children's Multidisciplinary Medical Center. As a result of the work carried out, it was found that the high frequency of phenotypic manifestations of connective tissue dysplasia in children with MVP indicates that the diverse clinical symptoms are not limited only to the defeat of the cardiovascular system.

Connective tissue dysplasia in children with broncho-obstructive syndrome

BACKGROUND: Changes in the respiratory system in children with connective tissue dysplasia (CTD) have not been studied enough.
 AIM: To study the features of CTD in patients of the pediatric pulmonology department with broncho-obstructive syndrome and chronic inflammation of the bronchi, to assess complaints and the nature of the disease.
 MATERIALS AND METHODS: Patients admitted to the department were evaluated according to the table of diagnostic signs of CTD. 380 children were examined, aged 2 to 17 years 11 months.
 RESULTS: Out of 380 children, the following were identified: with bronchial asthma 309, with obliterating bronchiolitis 18, with bronchiectasis 11, with recurrent bronchitis 42. Three groups were distinguished: 1st patients with CTD (172; 45%), 2nd with increased dysplastic stigmatization (111; 29%), 3rd children without signs of CTD (97; 26%). Most patients admitted to the pulmonology department have signs of CTD or dysplastic stigmatization (74%). Children with CTD often complain of feeling unwell, asthenia, joint pain, they are more likely to have orthopedic pathology. Patients of the 1st group often complain of articular syndrome 19.2%, group 2 13.5%, children without CTD 4.1 % (p 0.001). Complaints about feeling short of breath were presented by 32.6% of patients with CTD, 21.6% with dysplastic stigmatization, and 7.2% in the comparison group (p 0.001). Children with CTD and dysplastic stigmatization more often had chest deformities.
 CONCLUSIONS: Patients with CTD are characterized by asthenic physique, changes in the axial skeleton chest deformities of II and III degrees, scoliotic deformity of the spine of II and III degrees, which may contribute to the development of the pathology of the respiratory system. CTD is a comorbid condition that significantly affects all organs and systems. Timely diagnosis and an integrated approach to these patients are required. Diseases proceed with severe clinical symptoms, require more active examination and aggressive treatment.

Predictor properties of indicators of undifferentiated connective tissue dysplasia in children with gastroesophageal reflux for prediction of the development of heart rhythm and conduction disorders

The aim: to improve the early diagnosis of cardiac arrhythmia and conduction disorders in children with gastroesophageal reflux by studying the predictor properties of indicators of undifferentiated connective tissue dysplasia in this category of patients.
 Materials and methods. We examined 56 children aged 8 to 18 years, with an average age of 14.93±2.62 years, of which 28 children with gastroesophageal reflux in combination with cardiac arrhythmias and conduction disorders were divided into group I, and 28 children with only gastroesophageal reflux without heart rhythm and conduction disturbances – into group II (control). All examined patients underwent clinical and instrumental studies (electrocardiography, 24-hour ECG Holter monitoring, esophagogastroduodenoscopy and PH-metry) and an assessment of the phenotypic signs of undifferentiated connective tissue dysplasia according to the criteria of T. Milkovskaya-Dimitrova and A. Karkashov.
 Results. When analyzing the predictor properties of indicators of undifferentiated connective tissue dysplasia for predicting the development of cardiac arrhythmias and conduction disorders in children with gastroesophageal reflux, it was found that scoliotic posture had very high predictor properties (I=5.99), а high growth (I=1.94) and a short upper lip (I=1.17) – high, dysplastic tooth growth (I=0 .6) – moderate, and an abnormal shape of the auricles – low ones (I=0.27).
 Other indicators of undifferentiated connective tissue dysplasia did not have predictive properties at all: joint hypermobility (I=0.22), total number of signs of undifferentiated connective tissue dysplasia (I=0.11), asthenic type of constitution (I=0.11), flat feet (I=0.08), refractive errors (I=0.05), deviated septum of nose (I=0.03), dilated bridge of the nose (I=0.01), short neck (I=0.01).
 The mean value of the prognostic significance of indicators of undifferentiated connective tissue dysplasia was high (І̅=1,99).
 Conclusions. It was found that the mean value of the prognostic significance of indicators of undifferentiated connective tissue dysplasia was high (І̅=1,99).
 It was determined that arrhythmias and cardiac conduction disturbances in children with gastroesophageal reflux are associated with the presence of a scoliotic posture (І=5,99), high growth (І=1,94), dysplastic growth of teeth (І=0,6); in the absence of a short upper lip (І=1,17) and an abnormal shape of the auricles (І=0,27)

PREVALENCE OF SOME CLINICAL FORMS 112 OF CONNECTIVE TISSUE DYSPLASIA IN CHILDREN

Clinical signs of systemic connective tissue dysplasia in children with acute and recurrent torticollis were studied. 225 clinical cases were analyzed. The predominance of joint hypermobility and asthenic physique in the group of children with recurrent torticollis was revealed and proved by the medical statistics methods. In this group, such skeletal clinical forms as flat-valgus deformity of the feet, kyphosis, scoliosis were observed.

Innate Immunity in the Development of Connective Tissue Dysplasia: Pilot Study in Children with Congenital Hip Dislocation

Introduction: Observing and treatment of hip dysplasia in children have always been in the sphere of interest of modern molecular medicine. The role of molecular factors in the formation of connective tissue dysplasia in children is considered crucial for such multisystem disorders, and connective tissue dysplasia progressing involves immune system parameters and biochemical markers. The aim of this work was to establish the relationship between immune status indicators and biochemical markers of connective tissue using bioinformatics and modeling methods. Materials and Methods: 27 patients with congenital hip dislocation, admitted to the University Clinic of Privolzhsky Research Medical University, Department of children orthopedics for surgical treatment, were examined. Determination of 10 blood parameters was conducted by modern biochemical and immunological methods. Statistica 12.0 software from StatSoft was used for statistical data processing. Methods of nonparametric statistics were used since the samples in the control group partially follow the normal distribution. Correlation methods and regression modeling methods were used to evaluate the relationship of indicators. Results and Conclusion: In our investigation we have shown the presence of statistical and mathematical interactions between the parameters of innate immunity and indicators of connective tissue metabolism. The leading role of the immune system in the development of pathologies associated with connective tissue dysplasia is assumed. In further investigations it is necessary to clarify the role hypoxia in HIF-1 stimulated control of skeletal dysplasia, collagen modification, connective tissue dysplasia development.

Cardiac and Visceral Signs of Connective Tissue Dysplasia in Children with Juvenile Rheumatoid Arthritis According to Ultrasound Examination Data

To study the cardiac and visceral signs of connective tissue dysplasia in children with juvenile rheumatoid arthritis, a comprehensive ultrasound examination of the abdominal cavity organs and echocardiography examination were conducted according to the standard protocol in 52 children aged from 5 to 16 years with the diagnosis of juvenile rheumatoid arthritis. The reference group consisted of 26 patients with autonomic dysfunction (vegetative-vascular dystonia). The incidence of such visceral dysplasia types as duodenogastric reflux, gastroesophageal reflux, and gallbladder malformations among children with juvenile rheumatoid arthritis was shown higher than in the reference group. The main cardiac sign of connective tissue dysplasia in patients with juvenile rheumatoid arthritis are an excessive chord of the left ventricle.

Офтальмологічні критерії синдрому недиференційованої дисплазії сполучної тканини у дітей з набутою міопією

Метою роботи було визначення офтальмологічних критеріїв синдрому недиференційованої дисплазії сполучної тканини у дітей з набутою міопією. Встановлено, що головними офтальмологічними критеріями зорового аналізатора, які дозволяють проводити дискримінацію при набутій міопії між наявністю синдрому недиференційованої дисплазії сполучної тканини та його відсутністю з точками порогу класифікації, є показник заломлюючої сили рогівки ≤ 41,5 дптр (чутливість 88 %, специфічність 90 %), глибина передньої камери ока ≥ 3,88 мм (чутливість 87 %, специфічність 78 %), діаметр рогівки ≥ 11,85 мм (чутливість 90 %, специфічність 87 %).

Peroxidative degradation of proteins and lipids in undifferentiated connective tissue dysplasia in children, Ukraine.

The aim of the study was to assess the state of lipid and protein peroxidation in children with undifferentiated connective tissue dysplasia (UCTD). In this study, 63 children (33 children with UCTD and 30 children without UCTD were recruited and the indicators of lipid and protein peroxidation were measured. The enzymatic, colorimetric method was used to measure the level of total cholesterol (TC). The phospholipids were analyzed by liquid chromatography/mass spectrometry using electrospray ionization. Lipid peroxidation was studied by assessing the change of index and the end product of lipid peroxidation, malondialdehyde (MDA), using spectrophotometric method. Protein peroxidation - by the content of carbonylated protein based on 2,4 dinitrophenyl-hydrazones derivatization. The activity of the antioxidant defense system enzymes was assessed by measuring catalase (CAT) and superoxide dismutase (SOD). Our study revealed a significant increase of PPO products in the venous blood plasma and LPO products in erythrocytes in children with UCTD. Furthermore, an imbalance of the antioxidant defense system was observed in both blood plasma and erythrocytes membrane.

Dynamics of Phenotypic Manifestations of Connective Tissue Dysplasia in Children with Uroandrological Pathology in the Age Aspect

<i>Introduction</i>. A comparative study of the phenotypic manifestations of undifferentiated connective tissue dysplasia in children of various age groups with urological and andrological pathology is carried out in the article. <i>Materials and methods</i>. The study included 214 children aged 1 month to 17 years with clinical manifestations of undifferentiated connective tissue dysplasia, who were treated in the pediatric uroandrological department for congenital malformations and diseases of the genitourinary system. When establishing undifferentiated connective tissue dysplasia, a generally accepted table of external phenotypic markers was used with their scores. <i>Results</i>. In infants, abnormalities of the auricles and skin are most often detected. In pre-school age, craniocephalic abnormalities, pathology of the osteoarticular system, and abnormalities of the auricles were detected in the largest percentage of cases. The study found that an increase in the percentage of detection of ocular abnormalities increases with age. Moreover, 2 or more eye abnormalities were most common in older children. Anomalies of the oral cavity were diagnosed in only a quarter of infants and were manifested in them by a single sign. In older age categories, anomalies of the oral cavity were observed in more than half of patients, and often they were not single. During the examination of senior schoolchildren, it was noted that all children of this age category had some kind of abnormality from the osteoarticular system, and almost always they were multiple. <i>Conclusion</i>. Somatic manifestations of undifferentiated connective tissue dysplasia are often multi-organ in nature and often have nonspecific clinical symptoms. Identification of the patterns of formation of uroandrological pathology in patients of various age groups against the background of connective tissue failure will provide timely prevention and correction of visceral manifestations of dysplasia in children.

Assessment of risk factors for bronchial asthma associated with connective tissue dysplasia in children living in the Republic of Sakha (Yakutia)

Assessment of risk factors for bronchial asthma associated with connective tissue dysplasia in children living in the Republic of Sakha (Yakutia)

THE EFFECTIVENESS OF TREATMENT OF CERVICAL SPINE PATHOLOGIES ASSOCIATED WITH UNDIFFERENTIATED CONNECTIVE TISSUE DYSPLASIA IN CHILDREN

Introduction. The article background a necessity to timely perform conservative treatment of cervical spine pathologies associated with undifferentiated connective tissue dysplasia in children. Their treatment should consider all structural features of the cervical spine, its blood supply and concomitant pathologies which may be identified by diagnostic algorithms of multidisciplinary approach. Material and methods. In 2018-2020, 177 children with cervical spine pathologies associated with undifferentiated connective tissue dysplasia were conservatively treated in Morozovskaya Children’s City Clinical Hospital. All children were randomized into 3 groups which were prescribed different treatment modalities. In Group I, patients had standard treatment (exercise therapy, isometric gymnastics, massage, apparatus therapy); in Group II, head holders were added to standard treatment; in Group III, medicamentous therapy was added to standard treatment and head holders (magnesium lactate dihydrate and pyridoxine hydrochloride, levocarnitine). The instrumental examination revealed that all studied children had phenotypic signs of syndromes of undifferentiated connective tissue dysplasia and signs of pathology in the cervical spine. The average follow-up period was 24 months (6 months - 2 years). The average age of patients was 10 ± 3 years (5-17 years). Results and discussion. In order to assess the effectiveness of treatment, a comparative analysis of findings obtained at objective examinations was made before treatment and in 6 and 12 months after it. The examinations included: measurements of linear blood flow velocity in the vertebral arteries with ultrasound Doppler of the brachycephalic vessels; X-ray measurements of the cervical spine (Cruvelier joint and various displacements in vertebrae). The analysis performed has shown that the best results were registered in Group III. Conclusion. Findings obtained after catamnestic and instrumental examinations have showed that the complex treatment of cervical spine pathology, associated with undifferentiated connective tissue dysplasia in children, should include not only standard treatment (physical exercise trainings, massage, apparatus therapy) but also cervical orthoses and medicamentous therapy. Such a combined treatment has more pronounced therapeutic effect.

Prognostic value of connective tissue dysplasia in children with urinary tract infection

Research purpose. To determine the frequency and severity of connective tissue dysplasia in children with urinary tract infection to predict the course of the disease and justify the scope of the survey.Characteristics of children and research methods. A prospective study was conducted during 5 years, which included 120 children with community-acquired urinary tract infection at the age of 1 to 17 years. There were 90 children with acute pyelonephritis and 30 patients with acute cystitis. All children underwent a clinical and instrumental examination with a study of the manifestations of connective tissue dysplasia and assessment of its severity.Results. Connective tissue dysplasia occurred in 30% of children with urinary tract infection and depended on the form and course of pyelonephritis. With secondary pyelonephritis, its frequency increased to 56% with a predominance of the first degree of severity. When prospectively observed, only in 2 out of 30 girls with acute cystitis, the disease took a chronic course; one of them was diagnosed with connective tissue dysplasia of the I degree of severity. A relapse-free course of pyelonephritis was observed in 54 (68%) children. In 25 (32%) patients with secondary pyelonephritis, the course of the disease was recurring; in this group, connective tissue dysplasia was significantly more frequent and was observed in 23 (92%) of 25 patients.Conclusion. If seven to ten external signs of connective tissue dysplasia are detected in children with pyelonephritis, it is necessary to examine not only the urinary system, but also other systems for complex treatment.

Семиотика поражений желудочно-кишечного тракта при дисплазии соединительной ткани у детей

Семиотика поражений желудочно-кишечного тракта при дисплазии соединительной ткани у детей

Phenotypic symptoms of the connective tissue dysplasia in children with the cardiovascular system pathology

Aim. The aim of the study is to reveal the descriptive small developmental abnormalities (SDA) in children with cardiovascular pathology. Methods. By means of the scheme, designed at the Department of Clinical Genetics and Ultrasound Diagnostics of Kharkiv Medical Academy of Postgraduate Education, and the classification, developed by Merks H.M. with co-authors, the phenotype characteristic features were established in 99 patients with the cardiovascular system pathology. Results. The overwhelming number of the examined patients has more than 6 SDA (81.5%). The average level of stigmatization (7-10 SDA) has been determined in 52.5% of patients with cardiovascular pathology. Most of the SDA are concentrated in the craniofacial area (56.5%). No reliable differences have been observed in the number and location of the SDA after dividing the children in dependence with the clinical diagnosis and the results of the Ruffie test. The entire spectrum of the revealed SDA refers to the signs of the connective tissue dysplasia. Conclusions. The high level of SDA, which are typical for the connective tissue dysplasia, may testify to the congenital or acquired defects in the collagen biosynthesis, and, as the consequence, to the disorders in the function of the connective tissue in our patients. Keywords: small developmental abnormalities, children, cardiovascular pathology.

DYNAMICS OF PHENOTYPIC MANIFESTATIONS OF CONNECTIVE TISSUE DYSPLASIA IN CHILDREN WITH UROANDROLOGICAL PATHOLOGY IN THE AGE ASPECT

Introduction. The article includes a comparative study of phenotypic manifestations of undifferentiated connective tissue dysplasia in children of different age groups with urological and andrological pathology. Material and methods. The trial performed included 214 children aged from 1 month to 17 years with clinical manifestations of undifferentiated connective tissue dysplasia who were treated in the children’s uroandrological department for congenital malformations of the urogenital system. The generally accepted table of external phenotypic markers in scores was used in establishing undifferentiated connective tissue dysplasia . Results. In infants, the most frequent disorders were in ears and skin. In the preschool age, in the majority of cases, craniocephalic abnormalities, pathology of osteo-articular system and ears were met. The trail has revealed that the rate of ocular abnormalities increases with age. Moreover, two or more ocular problems were most common in older children. Anomalies of the oral cavity were diagnosed only in a quarter of infants and were manifested in them by a single sign. In older age groups, oral cavity anomalies were in more than half of the patients, and often they were not isolated. During the survey of senior schoolchildren, it was noted that all children of this age group had this or that disorder in their osteo-articular system, and almost always they were multiple. Conclusion. Somatic manifestations of undifferentiated connective tissue dysplasia are often multiorganic and often have non-specific clinical symptoms. Identification of patterns of formation of uroandrological pathology in patients of different age groups with connective tissue insufficiency will ensure timely prevention and correction of visceral manifestations of dysplasia in children.

COMPARATIVE CHARACTERISTIC OF MORPHOLOGICAL CHANGES AND PHENOTYPIC MARKERS OF DISPLASIA OF CONNECTIVE TISSUE IN CHILDREN WITH VARIOUS UROLOGICAL AND ANDROLOGICAL PATHOLOGY

The increase in the number of urological and andrological diseases associated with undifferentiated connective tissue dysplasia dictates the need to study this problem in childhood. The present study was aimed at analyzing the phenotypic manifestations of undifferentiated connective tissue dysplasia, as well as the severity of the morphological changes in its structures in children with various urological and andrological pathology, that constituted the main observation group. As a control group, children with a similar pathology of the genitourinary system without signs of mesenchymal insufficiency were examined. Comparative analysis of the detection of the number of phenotypic markers as one of the indicators of connective tissue dysplasia in children with various nosological forms from the urological department made it possible to determine the prevalence rate of the number of phenotypes in patients with hypospadia, varicocele and congenital edema of the testicle, and in the highest percentage of cases - in patients with hypospadias. Craniocephalic anomalies and small anomalies of the oral cavity were diagnosed most frequently. In a smaller percentage of cases, stigmata of the auricles and the osteoarticular system were identified. Phenotypic manifestations of dysplasia in the form of eye anomalies, pathology of the skin and its appendages - were noted even less often. The morphological confirmation of undifferentiated connective tissue dysplasia in the examined patients was the detection of dystrophy of collagen and elastic fibers, detected by means of microscopy. At the same time, a characteristic sign of dysplasia was the chaotic arrangement of collagen fibers, their thickening and discontinuity. Staining for elastin allowed detecting the uneven arrangement, curvature or fragmentation of elastic fibers. In the work, there was made a study of the features of morphological changes in connective tissue structures, depending on the nosological form. With this aim, we divided various histological signs of mesenchymal insufficiency, revealed during microscopy, in three degrees of the severity. Histological studies of connective tissue structures confirmed the predominance of more pronounced morphological manifestations of dysplasia in patients with hypospadias. They had severe dystrophic changes in 70% of cases, while such abnormalities in children operated for varicocele, were noted in every fourth biopsy, and in hydrops patients - only in 15% of cases. The study of collagen and elastic fibers of dermal preparations resected during surgical interventions in children with phimosis against the background of dysplasia syndrome showed no significant pathological changes. In biopsies of this group of patients, there were only minimal manifestations of mesenchymal insufficiency. In children with urological and andrological pathology without signs of undifferentiated dysplasia, morphological disturbances in structural components of connective tissue corresponding to mild severity were noted. Thus, the performed analysis of manifestations of connective tissue dysplasia in children with various urological and andrological pathology showed the prevalence of the number of phenotypic markers and the severity of morphological changes in children with hypospadias. Less severe manifestations of dysplasia were noted in patients with varicocele and hydrocele. The study of signs of connective tissue insufficiency in the group of patients with phimosis showed their minimal manifestations.

Analysis of the physical growth and markers of connective tissue dysplasia in patients with Perthes disease

Introduction. The pathogenesis of Perthes disease is not fully understood and requires a greater understanding of the physical development, external and internal markers of connective tissue dysplasia.&#x0D; Objective. To analyze the deviations in physical development and connective tissue dysplasia in children with Perthes disease to determine its phenotypes.&#x0D; Materials and methods. We examined 52 patients and 36 children (control group) aged of 4–17 years. We estimated and compared their physical and proportional growth by using centile charts and Vervec’s index and defined external and internal manifestations of connective tissue dysplasia in major organs, systems, and topographic regions. Complete genealogical histories were taken by with examining the genealogies of 52 probands, including clinical examination of 136 first and second degree relatives.&#x0D; Results. Deviations in physical growth were observed in 33 patients (63.5%). The body height of 27 (51.9%) patients aged 4–17 years ranged from 1–2 lines (3–10%) and was significantly lower than that of the control group within 5 lines (p &lt; 0.5). Six (11.6%) children had body lengths higher than the average 7th line (75–90%). Vervec’s index in 34 (65.4%) children ranged from 1.25–0.85 and represented mesomorphy, moderate brachy, or dolichomorphia. The primary pathology of external organs and systems was skeletal anomalies in 36 (69.2%) children, followed by dermal in 23 (44.2%) and organs of vision in 9 (17.3%). Among visceral disorders, the primary pathology was cardiovascular diseases in 17 (32,7%) children followed by surgical and urological pathologies in 7 (13.5%) and digestive system disorders in 5 (9.6%). Disease inheritance was sporadical in 48 (92.3%) children.&#x0D; Conclusion. The Perthes disease phenotype was related to the undifferentiated form of collagenopathies.