Aim—To describe the clinical phenotype in infants with ARC syndrome, the association of arthrogryposis, renal tubular acidosis, and cholestasis. Methods—The medical records for six patients with ARC syndrome were reviewed, presenting over 10 years to three paediatric referral centres. Results—All patients had the typical pattern of arthrogryposis. Renal Fanconi syndrome was present in all but o...

Amyoplasia congenita, or "classic distal arthrogryposis," is the most common disorder among the congenital, non-progressive, multiple joint contractural conditions named arthrogryposis. The cause remains unknown, and it occurs sporadically. Abnormal neurological examination indicates that movement in utero was diminished as a result of an abnormality of the central or peripheral nervous system,...

BACKGROUND Freeman-Sheldon and Sheldon-Hall syndromes (FSS and SHS) and distal arthrogryposis types 1 and 3 (DA1 and DA3) are rare, often confused, congenital syndromes. Few studies exist. With reported diagnosis unreliable, it would be scientifically inappropriate to consider articles describing FSS, SHS, DA1, or DA3, unless diagnoses were independently verified, rendering conventional systema...

Boolean multiplex (multilevel) networks (BMNs) are currently receiving considerable attention as theoretical arguments for modeling of biological systems and system level analysis. Studying control-related problems in BMNs may not only provide new views into the intrinsic control in complex biological systems, but also enable us to develop a method for manipulating biological systems using exog...

Background: The TTN gene is related to a broad phenotype spectrum including tibial muscular dystrophy, hereditary myopathy with respiratory failure, limb girdle dystrophy 2J and dilated or hypertrophic cardiomyopathy. In 2014, Chauveau et al, described phenotypes cardiac septal defects, left ventricular non-compaction, Emery-Dreifuss arthrogryposis. 2020, Savarese showed most of patients bialle...

Arthrogryposis multiplex congenita (AMC) is a genetic disease typified by non-progressive and multiple congenital limb contractures. The incidence of AMC 1 in 3,000 live births, occurring two or more areas the body. etiology syndrome largely unknown multifactorial. aim this article to report patient diagnosed with arthrogryposis who received physical medical rehabilitation intervention. We seve...