Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press67710.17650/2222-8721-2026-16-1-60-71CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРResearch ArticleKyphoscoliotic Ehlers–Danlos syndrome: case reports and literature reviewКифосколиотический синдром Элерса–Данло: клинические наблюдения и обзор литературыhttps://orcid.org/0000-0002-8244-9367RudenskayaG. E.РуденскаяГ. Е.
Russian Federation
rudenskaya@med-gen.ruhttps://orcid.org/0000-0002-2672-6294MarkovaT. V.МарковаТ. В.
Russian Federation
markova@med-gen.ruhttps://orcid.org/0009-0005-1406-0703TashtanbaevaD. O.ТаштанбаеваД. О.
Russian Federation
rudenskaya@med-gen.ruhttps://orcid.org/0000-0001-5436-836XMelnikE. A.МельникЕ. А..
Russian Federation
rudenskaya@med-gen.ruhttps://orcid.org/0000-0001-5602-2805DadaliE L.ДадалиЕ. Л.
Russian Federation
rudenskaya@med-gen.ruhttps://orcid.org/0000-0002-5819-4835SharkovaI. V.ШарковаИ. В.rudenskaya@med-gen.ruhttps://orcid.org/0000-0002-5474-4713ChukhrovaA. L.ЧухроваА. Л.
Russian Federation
rudenskaya@med-gen.ruhttps://orcid.org/0000-0001-5793-710XKazaryanM. S.КазарянМ. С.
Russian Federation
rudenskaya@med-gen.ruhttps://orcid.org/0000-0002-3743-094XOrlovaM. D.ОрловаМ. Д.
Russian Federation
rudenskaya@med-gen.ruhttps://orcid.org/0000-0003-1285-9093RyzhkovaO. P.РыжковаО. П.
Russian Federation
rudenskaya@med-gen.ruhttps://orcid.org/0000-0003-4905-1303ShchaginaO. A.ЩагинаО. А.
Russian Federation
rudenskaya@med-gen.ruResearch Centre for Medical GeneticsФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова»23062026161607117022026Copyright ©; 2026, ABV-PressCopyright ©; 2026, АБВ-пресс2026ABV-PressАБВ-прессhttps://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/677

In a number of Ehlers–Danlos syndrome types kyphoscoliotic Ehlers–Danlos syndrome (kEDS) is one of rare and most severe. It includes two autosomal recessive forms: kEDS-1 (gene PLOD1) and kEDS-2 (gene FKBP14). In addition to common in Ehlers–Danlos syndrome joint hypermobility, skin hyperextensibility, and tissue fragility, kEDS is characterized by early-onset progressing kyphoscoliosis and congenital muscular hypotonia with motor development delay; congenital myopathy is kEDS-2 facultative feature; in both forms vascular complications are probable. We present two kEDS-1 and two kEDS-2 cases in non-consanguineous Russian families. Various molecular genetic methods were used in diagnostics. The patients had all major kEDS signs. In a boy age 4.5 yrs. compound heterozygosity for a novel nonsence variant с.277delG (p.Asp93Ilefs*22) and common duplication of exons 10–16 in PLOD1 was detected; in 13 yrs. he developed symptoms of superior mesenteric artery aneurysm requiring surgery. A 4-months-old infant was homozygous for this duplication. Both kEDS-2 patients, a boy age 14 yrs. and a 7-moths-old girl, were homozygous for FKBP14 common variant c.362dupC (p.Glu122Argfs*7). The girl’s phenotype included congenital myopathy. The cases highlight importance of kEDS early recognition and of selecting DNA tests considering PLOD common extended duplication.

В число клинико-генетических типов синдрома Элерса–Данло входит редкий тяжелый кифосколиотический синдром Элерса–Данло (кСЭД), включающий 2 аутосомно-рецессивные формы: преобладающий кСЭД-1 (ген PLOD1) и кСЭД-2 (ген FKBP14). Кроме общих для синдрома Элерса–Данло гипермобильности суставов, гиперэластичности кожи, ранимости тканей для кСЭД характерны ранний прогрессирующий кифосколиоз и врожденная мышечная гипотония с задержкой моторного развития; факультативный признак кСЭД-2 – врожденная миопатия; при обеих формах вероятны сосудистые осложнения. Представлены 2 случая кСЭД-1 и 2 случая кСЭД-2 в неинбредных русских семьях. В диагностике использованы различные методы ДНК-анализа. Все пациенты имели основные симптомы кСЭД. У мальчика с кСЭД-1 в возрасте 4,5 года в гене PLOD1 найдены ранее не описанный нонсенс-вариант с.277delG (p.Asp93Ilefs*22) и частая патогенная дупликация экзонов 10–16 в компаунд-гетерозиготном состоянии; в 13 лет у него обнаружена аневризма верхней брыжеечной артерии, требовавшая хирургического вмешательства. Ребенок 4 мес имел эту дупликацию в гомозиготном состоянии. FKBP14-генотип подростка 14 лет и девочки 7 мес с кСЭД-2 – гомозиготность по частому патогенному варианту c.362dupC (p.Glu122Argfs*7). Фенотип девочки включал врожденную непрогрессирующую миопатию. Представленные случаи подчеркивают необходимость раннего распознавания кСЭД и выбора метода ДНК-анализа с учетом частой протяженной дупликации в гене PLOD1.

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