Results 41 to 50 of about 317 (112)

Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome

The Turkish Journal of Pediatrics
Background. Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of amorphous hyaline material in connective tissues.
Tuğba Daşar, Hasibe Nesligül Gönen, Kemal Kösemehmetoğlu, Özlem Tekşam, Koray Boduroğlu, Gülen Eda Utine, Pelin Özlem Şimşek Kiper   +6 more
doaj   +1 more source

Myopathic changes in muscle biopsy of a patient with infantile systemic hyalinosis

Paediatria Croatica, 2012
Infantile systemic hyalinosis is an autosomal recessive disorder characterized by congenital progressive joint contractures, facial dysmorphism, erythematous and papular rash, perianal nodules and protein-losing enteropathy. Clinical onset of the disease is usually within the first few weeks of life.
ÖZER, ERDENER, Kurul, Semra Hiz, YİŞ, ULUÇ, Firat, Canan, Karakaya, Pakize, Topcu, Yasemin, Bayram, Erhan   +6 more
openaire   +2 more sources

Overlapping Hyaline Fibromatosis Syndrome: A Rare Case of Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis. [PDF]

Cureus, 2022
Oswal RM, Prasad SS, Manohar N, Pise GA, Rao K.   +4 more
europepmc   +1 more source

Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases. [PDF]

J Pediatr Genet, 2023
Gowda VK, Srinivas SM, Gupta P, Srinivasan VM, Shivappa SK, Vishwanathan GB.   +5 more
europepmc   +1 more source

Infantile Systemic Hyalinosis: Report of 17-year Experience.

Iranian journal of pediatrics, 2015
Infantile Systemic Hyalinosis (ISH) is a very rare autosomal recessive disorder characterized by connective tissue involvement as hyaline deposition in skin, gastrointestinal tract, muscles, glands and other organs.We report eight Iranian children (4 male and 4 female) with ISH referred to our hospital from 1996 to 2013.
Seyed Reza, Raeeskarami, Yahya, Aghighi, Azadeh, Afshin, Abdolreza, Malek, Ali, Zamani, Vahid, Ziaee   +5 more
openaire   +1 more source

Infantile systemic hyalinosis [PDF]

, 2020
openaire   +1 more source

Infantile systemic Hyalinosis in a 6-month-old male: identification of homozygous ANTXR2 gene mutation. [PDF]

Oxf Med Case Reports
Moshfegh F, Hosseinzade Z, Javanbakht M, Javid A, Mozaffari M.   +4 more
europepmc   +1 more source

Beyond Skin Deep: A Case Report of Infantile Systemic Hyalinosis in a Six-Month-Old Infant. [PDF]

Cureus
Vagha JD, Wazurkar A, Madke B, Lohiya S, Wandile S, Vagha K, Javvaji CK, Naseri S.   +7 more
europepmc   +1 more source

Exposure to SARS-CoV-2 and Infantile Diseases. [PDF]

Glob Med Genet, 2023
Kanduc D.
europepmc   +1 more source

Infantile Systemic Hyalinosis: A Case Report of Compromised Cellular and Humoral Branches of the Immune System Leading to Infections. [PDF]

Pediatr Asthma Allergy Immunol, 2009
Klebanova Y, Schwindt C.
europepmc   +1 more source