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ALLMedicine™ Arthrogryposis Center

Research & Reviews  372 results

50 Years Ago in TheJournalofPediatrics: Cataracts, Microcephaly, and Arthrogryposis.
The Journal of Pediatrics; Giampietro PF

Jul 27th, 2021 - 50 Years Ago in TheJournalofPediatrics: Cataracts, Microcephaly, and Arthrogryposis.|2021|Giampietro PF,|

Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contr...
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...

Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
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...

A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome,...
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...

Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotyp...
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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Drugs  5 results see all →

News  6 results

Zika-linked birth defects climbing in U.S. hot spots
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.

Eye Problems Independent of Microcephaly in Zika Babies (JAMA Pediatrics)

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...

Recognizing Congenital Zika Syndrome

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.

Arthrogryposis Associated With Zika Infection In Utero

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 ...

Study evaluates Zika syndrome with joint contractures
Doug Brunk

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.

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Patient Education  1 results see all →