Spondyloepiphyseal dysplasias in the structure of idiopathic stunting in children
https://doi.org/10.14341/osteo13172
Abstract
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.
About the Authors
M. V. Sekinaeva
I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Competing Interests:
Russian Federation
Madina V. Sekinaeva - Clinical resident of the Department of Pediatric diseases.
119021, Moscow, Bolshaya Pirogovskaya Street, 19, building 2
Competing Interests:
none
A. V. Vitebskaya
I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Competing Interests:
Russian Federation
Alisa V. Vitebskaya - MD, endocrinologist, Associate Professor of the Department of Pediatric Diseases.
Moscow
Competing Interests:
none
Yu. V. Tikhonovich
I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Competing Interests:
Russian Federation
Yulia V. Tikhonovich - MD, Pediatric endocrinologist, head of the pediatric endocrinology department.
Moscow
Competing Interests:
none
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Sekinaeva M.V., Vitebskaya A.V., Tikhonovich Yu.V. Spondyloepiphyseal dysplasias in the structure of idiopathic stunting in children. Osteoporosis and Bone Diseases. 2024;27(3):28-36. (In Russ.) https://doi.org/10.14341/osteo13172
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