دورية أكاديمية
Infantile systemic hyalinosis: Variable grades of severity
| العنوان: | Infantile systemic hyalinosis: Variable grades of severity |
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| المؤلفون: | Ali Al Kaissi, Marwa Hilmi, Zulfiya Betadolova, Sami Bouchoucha, Svetlana Trofimova, Mohammad Shboul, Guseyn Rustamov, Wiam Dwera, Katharina Sigl, Vladimir Kenis, Susanne Gerit Kircher |
| المصدر: | African Journal of Paediatric Surgery, Vol 18, Iss 4, Pp 224-230 (2021) |
| بيانات النشر: | Wolters Kluwer Medknow Publications, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Pediatrics LCC:Surgery |
| مصطلحات موضوعية: | antxr2 gene mutation, infantile systemic hyalinosis, phenotype, radiology, Pediatrics, RJ1-570, Surgery, RD1-811 |
| الوصف: | Background: Infantile systemic hyalinosis (ISH) is an autosomal recessively inherited disorder. The classical natural history of the disease is characterised by hypotonia, multiple contractures, skin lesions, osteopenia, joint pain, bone fractures, persistent diarrhoea and growth deficiency. Materials and Methods: Two children manifested the severe type of ISH underwent genotypic confirmation. In order to identify which other family members have inherited the disease. We included siblings and cousins in this study. The baseline tool to study other family subjects was based on the phenotypic characterisations of each child. Results:. Two children with the severe type of ISH showed craniosynostosis (brachycephaly and scaphocephaly) associated with multiple contractures, progressive joint osteolysis ending up with multiple joint dislocations. The full exome sequencing was carried out, revealing a previously reported heterozygous nonsense mutation с.1294С>Т and a novel heterozygous non-synonymous substitution c. 58T>A in ANTRX2 gene. Three children (sibling and cousins) manifested variable clinical manifestations relevant to ISH. Specifically, asymptoamtic skin and skeletal abnormalities of hypoplastic clavicles and 'shepherd's crook' deformity and coxa vara. Conclusion: It is mandatory to perform extensive family pedigree search to detect asymptomatic clinical features in siblings and cousins in families with first degree related marriages. Interestingly, in the mild and the moderate types of ISH, we observed undescribed combination of asymptomatic skin and skeletal abnormalities. This is a comparative study between the severe and the mild/moderate types in a group of children from consanguineous families. Our current study extends the phenotypic characterisations of ISH. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 0189-6725 |
| Relation: | http://www.afrjpaedsurg.org/article.asp?issn=0189-6725;year=2021;volume=18;issue=4;spage=224;epage=230;aulast=Al; https://doaj.org/toc/0189-6725 |
| DOI: | 10.4103/ajps.AJPS_162_20 |
| URL الوصول: | https://doaj.org/article/11666cef287646cda2cd50ae5c176c17 |
| رقم الأكسشن: | edsdoj.11666cef287646cda2cd50ae5c176c17 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 01896725 |
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| DOI: | 10.4103/ajps.AJPS_162_20 |