problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl13517problendo-13517Research ArticleДетская эндокринологияPediatric EndocrinologyМикроцефальная остеодиспластическая примордиальная карликовость II типа (МОПК II типа): описание клинического случаяMicrocephalic osteodysplastic primordial dwarfism type II (MOPD II): clinical casehttps://orcid.org/0000-0003-0412-7140МакрецкаяН. А.MakretskayaN. A.

Макрецкая Нина Алексеевна, к.м.н. 

ул. Москворечье, д. 1, 115522, Москва

Nina A. Makretskaya, MD, PhD

1 Moskvorechye street, 115522 Moscow

makretskayan@gmail.comhttps://orcid.org/0000-0002-2000-7694КалинченкоН. Ю.KalinchenkoN. Y.

Калинченко Наталья Юрьевна, к.м.н. 

Москва

Nataliya Y. Kalinchenko, MD, PhD

Moscow

kalinnat@rambler.ruhttps://orcid.org/0000-0001-8500-4841ТюльпаковА. Н.TiulpakovA. N.

Тюльпаков Анатолий Николаевич, д.м.н. 

Москва

Anatoliy N. Tyulpakov, MD, PhD

Moscow

anatolytiulpakov@gmail.comМедико-генетический научный центр им. академика Н.П. БочковаРоссияResearch Centre for Medical GeneticsRussian FederationНациональный медицинский исследовательский центр эндокринологии им. академика И.И. ДедоваРоссияI.I. Dedov Endocrinology Research CentreRussian FederationМедико-генетический научный центр им. академика Н.П. Бочкова; Российская детская клиническая больницаРоссияResearch Centre for Medical Genetics; Russian Children’s Clinical HospitalRussian Federation2025220720257133438Copyright © Макрецкая Н.А., Калинченко Н.Ю., Тюльпаков А.Н., 20252025Макрецкая Н.А., Калинченко Н.Ю., Тюльпаков А.Н.Makretskaya N.A., Kalinchenko N.Y., Tiulpakov A.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.probl-endojournals.ru/jour/article/view/13517

Задержка внутриутробного развития (ЗВУР) представляет собой патологическое состояние, характеризующееся низкой массой и/или длиной плода (≤-2 SD) для данного пола и гестационного возраста. Примерно в 10% случаев ЗВУР не компенсируется в постнатальном периоде, в основе патогенеза данного состояния в таком случае лежат различные моногенные синдромы или хромосомные аномалии. Сложность в постановке патогенетического диагноза в данной группе пациентов обусловлена, с одной стороны, схожестью фенотипических проявлений в структуре ЗВУР, с другой — вариабельностью клинических проявлений в рамках конкретного синдрома. Проведение различных молекулярно-генетических исследований является основным методом диагностики формы ЗВУР. Одним из наиболее распространенных наследственных вариантов задержки внутриутробного развития является микроцефальная остеодиспластическая примордиальная карликовость II типа (МОПК II типа), фенотипическими особенностями которой являются наличие скелетных аномалий и цереброваскулярных изменений. Заболевание обусловлено наличием биаллельных мутаций в гене PCNT. В данной работе представлена клиническая характеристика первого пациента с микроцефальной остеодиспластической примордиальной карликовостью II типа в Российской Федерации. Нуклеотидные изменения, выявленные у пациента, ранее не описаны в мировой литературе.

Small for gestational age (SGA) refers to the size of an infant at birth, and is defined as a birth weight and/or birth length below the −2.0 SDS for the gestational age. In approximately 10% of cases, SGA is not compensated for in the postnatal period, with the pathogenesis of this condition being attributed to various monogenic syndromes or chromosomal abnormalities. The difficulty in making a pathogenetic diagnosis in this group of patients is due, on the one hand, to the similarity of phenotypic manifestations in the structure of the disease, on the other hand, to the variability of clinical manifestations within a specific syndrome. Conducting various molecular genetic studies is the main method of diagnosing the form of SGA. Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is one of the most common genetic variants of SGA, with its phenotypic features including skeletal anomalies and cerebrovascular changes. The disease is caused by biallelic mutations in PCNT gene. This study presents the clinical characteristics of the first patient with microcephalic osteodysplastic primordial dwarfism type II in the Russian Federation. The nucleotide changes detected in the patient have not been previously described in the world literature.

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