1. Репозитарій НУОЗ України імені П. Л. Шупика
  2. Український державний інститут репродуктології
  3. Кафедра медичної та лабораторної генетики
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Назва: Thanatophoric dysplasia: literature review and clinical case in monochoric diamniotic twins
Автори: Ластівка, І.В.
Бабінцева, А.Г.
Анцупова, В.В.
Юрків, О.І.
Брішевац, Л.І.
Малєєва, І.О.
Ключові слова: Thanatophoric Dysplasia
Fibroblast Growth Factor Receptor 3
Monochorionic Diamniotic Twin
Дата публікації: 2023
Видавництво: Неонатологія, хірургія та перинатальна медицина
Бібліографічний опис: DOI: 10.24061/2413-4260.XIІI.3.49.2023.18
Серія/номер: Т.13, №3(49).;С.132-140.
Короткий огляд (реферат): Thanatophoric dysplasia, TD (OMIM: 187600, 87601) belongs to the group of FGFR3 chondrodysplasias and is divided into types I and II. The incidence of TD is approximately 1:20,000-50,000 newborns. TD is usually caused by pathogenic variants in the FGFR3 gene, which provides instructions for making a protein involved in the development and maintenance of bone and brain tissue. Mutations in the gene result in excessive protein activity. TD is inherited as an autosomal dominant trait, although cases of autosomal recessive inheritance have been described.
Опис: According to the radiologic changes of the bones and skull, there are 2 clinical types of TD: type I (TD1, MIM 187600) and type II (TD2, MIM 187601) with some overlap between them. Type I TD is characterized by micromelia with curved femurs, marked platyspondylia with or without a cloverleaf skull. TD type II is characterized by micromelia with straight femurs and the uniform presence of moderate to severe craniosynostosis with a leaf-shaped skull deformity due to premature closure of the coronal and lambdoid sutures.. The diagnosis of TD is made syndromologically and/or radiologically and/or by detection of a heterozygous pathogenic FGFR3 variant identifi ed by molecular genetic testing. The article presents a rare clinical case of TD in monochorionic dizygotic twins with a fatal outcome. During prenatal ultrasound examination at 26-27 and 35-36 weeks of gestation, signs of skeletal dysplasia were diagnosed in both fetuses against the background of pronounced polyhydramnios. It should be noted that the father of the children is over 60 years old. The diagnosis of both children was made syndromologically and radiologically based on the detection of phenotypic signs of TD (predominance of the skull over the face, short upper and lower limbs, altered shape of the chest, infl amed nasal bridge) and radiological signs of TD (short ribs, narrow chest, relative macrocephaly, micromelia of all limbs). Genetic testing for TD was not performed. The clinical case was published with the consent of the parents in accordance with the principles of bioethics.
URI (Уніфікований ідентифікатор ресурсу): http://lib.inmeds.com.ua:8080/jspui/handle/lib/4724
ISSN: ISSN 2413-4260 (Online), ISSN 2226-1230 (Print)
Розташовується у зібраннях:Кафедра медичної та лабораторної генетики

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