porozendoОстеопороз и остеопатииOsteoporosis and Bone Diseases2072-26802311-0716Endocrinology Research Centre10.14341/osteo13172porozendo-13172Research ArticleНаучный обзорReviewСпондилоэпифизарные дисплазии в структуре идиопатической низкорослости у детейSpondyloepiphyseal dysplasias in the structure of idiopathic stunting in childrenhttps://orcid.org/0009-0005-4632-7011СекинаеваМ. В.SekinaevaM. V.

Секинаева Мадина Вадимовна - клинический ординатор кафедры детских болезней.

119021, Москва, ул. Большая Пироговская, д. 19, стр. 2

Madina V. Sekinaeva - Clinical resident of the Department of Pediatric diseases.

119021, Moscow, Bolshaya Pirogovskaya Street, 19, building 2

sekinaeva.madina@mai.ruhttps://orcid.org/0000-0001-5689-0194ВитебскаяА. В.VitebskayaA. V.

Витебская Алиса Витальевна - к.м.н., врач-эндокринолог, доцент кафедры детских болезней.

Москва

Alisa V. Vitebskaya - MD, endocrinologist, Associate Professor of the Department of Pediatric Diseases.

Moscow

dr.vitebskaya@gmail.comhttps://orcid.org/0000-0001-7747-6873ТихоновичЮ. В.TikhonovichYu. V.

Тихонович Юлия Викторовна - к.м.н., врач-детский эндокринолог, заведующая детским эндокринологическим отделением.

Москва

Yulia V. Tikhonovich - MD, Pediatric endocrinologist, head of the pediatric endocrinology department.

Moscow

yuliatihonovich@mail.ruФГАУО ВО «Первый МГМУ имени И.М. Сеченова» Минздрава России (Сеченовский Университет)РоссияI.M. Sechenov First Moscow State Medical University (Sechenov University)Russian Federation2024050120252732836Copyright © Секинаева М.В., Витебская А.В., Тихонович Ю.В., 20252025Секинаева М.В., Витебская А.В., Тихонович Ю.В.Sekinaeva M.V., Vitebskaya A.V., Tikhonovich Y.V.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.osteo-endojournals.ru/jour/article/view/13172

Наследственные скелетные дисплазии (НСД) относятся к первичным нарушениям роста; встречаются с частотой 1:5000 новорожденных; характеризуются широкой фенотипической гетерогенностью. Диагностика НСД основывается на клинических симптомах (диспропорциональное соотношение сегментов тела), рентгенографических характеристиках минерализации, созревания и морфологии костей, молекулярно-генетических исследованиях. Лечение данной группы пациентов должно быть мультидисциплинарным, поскольку затрагивает не только скелет. Роль детского эндокринолога заключается в том, чтобы оценить потенциал роста этих пациентов и предложить наиболее оптимальное лечение. В обзоре приводятся данные о различных вариантах спондилоэпи(мета)физарной дисплазии (СЭ(M)Д) — большой гетерогенной группе НСД, ассоциированных с низкорослостью. Клинические проявления СЭМД включают низкий рост, нарушение развития позвонков, эпифизов и метафизов длинных трубчатых костей, опережение костного возраста и т.п. Необходима дифференциальная диагностика наиболее распространенных причин низкорослости с генетическими заболевания скелета, которые характеризуются широкой фенотипической гетерогенностью и требуют тщательного обследования. В данном обзоре проводятся анализ и обобщение литературных данных по проблеме спондилоэпифизарной дисплазии как одной из причин идиопатической низкорослости у детей.

Hereditary skeletal dysplasias (HSD) are primary growth disorders; occur with a frequency of 1: 5000 newborns; characterized by wide phenotypic heterogeneity. Diagnosis of НSD is based on clinical symptoms (dyspropotion of body segments), radiographic characteristics of bone mineralization, maturation and morphology, and molecular genetic studies. Treatment of this group of patients must be multidisciplinary, since it affects not only skeleton. The role of the pediatric endocrinologist is to assess the growth potential of these patients and suggest the most optimal treatment. The review provides data on various types of spondyloepi(meta)physeal dysplasias (SE(M)D), a large heterogeneous group of HSD associated with short stature. Clinical manifestations of SEMD include short stature, disorders in development of spondyles, epiphyses and metaphyses of tubular bones, advanced bone age, etc. It is necessary to differentiate the most common causes of short stature from genetic skeletal diseases, which are characterized by wide phenotypic heterogeneity and require careful examination. In this review, we analyse the literature data on spondyloepiphyseal dysplasia, as one of the causes of idiopathic short stature in children.

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The authors declare that there are no conflicts of interest present.