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Year : 2021  |  Volume : 18  |  Issue : 4  |  Page : 224-230

Infantile systemic hyalinosis: Variable grades of severity

1 Orthopedic Hospital of Spesing, Pediatric Department, Vienna, Austria
2 Family Medicine Operations, Omar Bin Al Khatab Hospital, Doha, Qatar
3 Pediatric clinic «Kidney», Makhachkala, Republic of Dagestan, Russian Federation, Tunis, Tunisia
4 Pediatric Orthopedic Surgery, The Béchir-Hamza Children's Hospital or Bab Saadoun, Tunis, Tunisia
5 Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Pediatric Orthopedic Institute N.A. H. Turner, Parkovaya Str., 64-68, Pushkin, Saint, Petersburg, Russia
6 Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid, 22110, Jordan
7 Department of Pediatric Orthopedic and Trauma Surgery, State hospital of Republic of Dagestan, Makhachkala, Russian Federation, Tunis, Tunisia
8 The Béchir-Hamza Children's Hospital or Bab Saadoun, Tunis, Tunisia
9 Head of the Muscuol-Skeletal Group Ordens-Klinikum, Linz, Austria
10 Center of Pathobiochemistry and Genetics, Medical University of Vienna, Austria

Correspondence Address:
Dr. Ali Al Kaissi
Orthopedic Hospital of Speising Vienna
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ajps.AJPS_162_20

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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.

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