Infantile systemic hyalinosis diagnosed as arthrogryposis multiplex congenita - A case report and literature review

• Үндсэн зохиолчид: Kritika Gupta (Зохиогч), Hania Q Khan (Зохиогч), Syed S Amin (Зохиогч), Mithilesh Chandra (Зохиогч)
• Формат: Ном
• Хэвлэсэн: Wolters Kluwer Medknow Publications, 2023-01-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: Connect to this object online.

Infantile systemic hyalinosis (ISH) is a rare fatal autosomal recessive disorder characterized by hyaline deposition in the skin and internal organs. Children with ISH usually present to orthopedicians due to decreased and painful limb movements with flexed position and are often misdiagnosed due to...