ALLMedicine™ Arthrogryposis Center
Research & Reviews 372 results
The Journal of Pediatrics; Giampietro PF
Jul 27th, 2021 - 50 Years Ago in TheJournalofPediatrics: Cataracts, Microcephaly, and Arthrogryposis.|2021|Giampietro PF,|
Neuromuscular Disorders : NMD; McDermott H, Henderson A et. al.
Jul 26th, 2021 - This report focuses on a case of severe congenital myopathy with arthrogryposis without cardiac involvement due to compound heterozygous variants in the TTN gene. The proband presented with severe axial hypotonia, arthrogryposis and severe respira...
Clinical Genetics; Marconi C, Lemmens L et. al.
May 27th, 2021 - Arthrogryposis describes the presence of multiple joint-contractures. Clinical severity of this phenotype is variable, and more than 400 causative genes have been proposed. Among these, ERGIC1 is a recently reported candidate encoding a putative t...
Ophthalmic Genetics; Godfrey D, Torres A et. al.
May 6th, 2021 - Background: Duane retraction syndrome and arthrogryposis multiplex congenita have an incidence of approximately 1:1500-1:3000 live births. However, the association of these two entities with a Marcus-Gunn might be a rare and, until now, under-reco...
American Journal of Medical Genetics. Part A; Rosano KK, Wegner DJ et. al.
May 2nd, 2021 - Spinal muscular atrophy with congenital bone fractures 2 (SMABF2), a type of arthrogryposis multiplex congenita (AMC), is characterized by congenital joint contractures, prenatal fractures of long bones, and respiratory distress and results from b...
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News 6 results
M. Alexander Otto
Jan 25th, 2018 - The prevalence of birth defects strongly linked with congenital Zika virus infection increased 21% from the first to the second half of 2016 in areas of the United States with local, endemic transmission: Puerto Rico, south Florida, and southern T.
Jul 17th, 2017 - Over 40% of infants with an abnormal eye examination who were born to mothers with evidence of Zika infection did not have microcephaly, a small case series found. Researchers writing in JAMA Pediatrics argued that eye abnormalities may be the onl...
Jan 3rd, 2017 - VANCOUVER—Infants infected with Zika virus in utero may develop a syndrome characterized by brain volume loss, intracerebral calcifications, and spasticity. They may develop dyskinesia or seizures after several months, and a subset of children has.
Aug 15th, 2016 - Arthrogryposis in infants can be associated with congenital Zika virus infection, according to a new retrospective case series published in the BMJ. Arthrogryposis is characterized by joint contractures at birth and has been described in patients ...
Aug 9th, 2016 - Congenital Zika syndrome should be added to the differential diagnosis of congenital infections and arthrogryposis (joint contractures), results from a case series study in Brazil suggest. “Brain impairment in the presence of microcephaly is the m.