|1.||Congenital Abnormalities (Deformity)
|2.||Muscular Diseases (Myopathy)
|5.||Atrial Heart Septal Defects (Atrial Septal Defect)
|1.||Gissen, Paul: 7 articles (07/2015 - 04/2004)|
|2.||Bamshad, Michael J: 7 articles (06/2015 - 05/2006)|
|3.||Beck, Anita E: 4 articles (06/2015 - 01/2013)|
|4.||McMillin, Margaret J: 4 articles (06/2015 - 01/2013)|
|5.||Carey, John C: 4 articles (03/2015 - 03/2003)|
|6.||Clarke, Nigel F: 4 articles (01/2015 - 01/2008)|
|7.||Kahr, Walter H A: 4 articles (12/2012 - 11/2004)|
|8.||Knisely, A S: 4 articles (12/2012 - 04/2004)|
|9.||Oldfors, A: 4 articles (11/2012 - 08/2006)|
|10.||Tajsharghi, H: 4 articles (11/2012 - 08/2006)|
|1.||congenital Vertical talusIBA
05/01/2005 - "The congenital vertical talus seen in distal arthrogryposis (Group II) was milder than that seen in Groups III or IV and feet in this group responded well to early one-stage surgical correction. "
05/01/2005 - "No practical classification system exists to identify which patients may have successful outcome following treatment of congenital vertical talus in arthrogryposis. "
05/01/2005 - "Congenital vertical talus in arthrogryposis and other contractural syndromes."
|2.||Congenital Talipes EquinovarusIBA
05/01/1997 - "In 27 cases of arthrogryposis diagnosed in the second and third trimesters there was severe bilateral talipes, fixed flexion deformities of the wrists and elbows and either fixed flexion or extension of the knees. "
04/01/2009 - "The present study describes a 9-month-old infant who presented with congenital lumbar hernia, kyphoscoliosis, atrial septal defect, congenital talipes equinovarus and arthrogryposis. "
07/15/2008 - "NAM features include congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) provoked by anesthesia. "
01/01/1986 - "Hyperthermia is particularly damaging to the central nervous system, and if a threshold exposure occurs at the appropriate stages of embryonic development, exencephaly, anencephaly, encephalocoele, micrencephaly, microphthalmia, neurogenic talipes, and arthrogryposis can be produced in a high proportion of exposed embryos, the incidence and type of defect depending on the species and strain within species, the stage of development, and the severity of hyperthermic exposure. "
07/29/2004 - "To identify the cause of a Carney complex variant associated with distal arthrogryposis (the trismus-pseudocamptodactyly syndrome), we performed clinical and genetic studies. "
09/01/2015 - "Hecht Syndrome is an autosomal dominant distal arthrogryposis caused by mutation in the MYH8 locus characterized by trismus and pseudocamptodactyly. "
11/15/2006 - "Trismus-pseudocamptodactyly syndrome (TPS) is a rare autosomal dominant distal arthrogryposis (DA) characterized by an inability to open the mouth fully (trismus) and an unusual camptodactyly of the fingers that is apparent only upon dorsiflexion of the wrist (i.e., pseudocamptodactyly). "
02/01/2013 - "The second phenotype, observed in four unrelated families, is autosomal dominant trismus-pseudocamptodactyly syndrome (distal arthrogryposis type 7; previously associated exclusively with myosin heavy chain 8 mutations). "
|4.||Arthrogryposis renal dysfunction cholestasis syndromeIBA
01/01/2011 - "ARC syndrome should be included in the differential diagnosis of arthrogryposis. "
12/18/2015 - "Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome-associated mutations in VPS33B selectively disrupt recruitment to late endosomes by RILP or binding to its partner VIPAS39. "
07/01/2015 - "Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations in the VPS33B and VIPAS39. "
04/28/2014 - "Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (OMIM 208085) is an autosomal recessive disorder that is caused by mutations in 2 interacting genes VPS33B and VIPAS39. "
01/07/2014 - "Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a rare genetic disorder and has not been described in China. "
|5.||Arthrogryposis multiplex congenitaIBA
02/28/2006 - "Six patients had a clear clinical appearance of classical arthrogryposis multiplex congenita, six had distal arthrogryposis, two girls had Larsen's syndrome, and three had other forms of joint involvement. "
10/01/1997 - "These findings suggest that mitochondrial cytopathies can be associated with arthrogryposis multiplex congenita and should therefore be sought in neonates presenting with severe arthrogryposis."
08/28/1995 - "The father was reported 54 years ago as a case of amyoplasia congenita (arthrogryposis multiplex congenita). "
01/01/1992 - "Key words: arthrogryposis multiplex congenita, amyoplasia, distal arthrogryposis, electromyography, dermatoglyphes, therapy."
06/01/1982 - "Five cases of arthrogryposis multiplex congenita in two families characterized by autosomal dominant inheritance, intrafamilial variability and primary involvement of the distal part of the limbs were analyzed to suggest that this condition is comparable to previously reported cases classified as distal arthrogryposis or digitotalar dysmorphism. "
01/01/2009 - "distal arthrogryposis 1 and Freeman-Sheldon syndrome). "
11/01/2007 - "Freeman-Sheldon syndrome, described in 1938, is an infrequent form of arthrogryposis. "
03/15/1991 - "They have distal arthrogryposis, severe developmental retardation, facial anomalies as seen in the Freeman-Sheldon syndrome ("whistling face"), and Pierre Robin sequence. "
03/05/2015 - "Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. "
05/01/2003 - "Freeman-Sheldon syndrome is a rare form of distal arthrogryposis characterized by craniofacial anomalies, a rheumatoid-appearing hand, and pedal deformities. "
02/01/2013 - "Mutations in the TPM2 gene, which encodes β-tropomyosin, are an established cause of several congenital skeletal myopathies and distal arthrogryposis. "
11/01/2012 - "The dominant β-tropomyosin mutations manifest either as congenital myopathy or distal arthrogryposis. "
05/25/2010 - "Hence, we recorded and analyzed the X-ray diffraction patterns of human membrane-permeabilized muscle cells expressing a particular beta-tropomyosin mutation (R133W) associated with a loss in cell force production, in vivo muscle weakness, and distal arthrogryposis. "
11/01/2008 - "The mutation Arg91Gly (R91G) in beta-tropomyosin (beta-TM) is known to cause distal arthrogryposis, a severe congenital disorder of muscle tissues. "
03/06/2007 - "Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation."
|8.||Multiple pterygium syndromeIBA
01/01/2014 - "Escobar syndrome (ES) or multiple pterygia syndrome (MIM#265000) is an infrequent condition characterized by facial dysmorphism, multiple webbing (pterygia), congenital contractures (arthrogryposis) and other internal anomalies. "
03/01/2012 - "Multiple pterygium syndrome is a clinically and genetically heterogeneous disorder characterized by pterygia of the neck, elbows and/or knees, arthrogryposis, and other phenotypic features such as short stature, genital abnormalities, craniofacial abnormalities, clubfoot, kyphoscoliosis, and cardiac abnormalities. "
03/01/1990 - "The most frequently identified genetic abnormalities in our review were chromosomal disorders (15.7%), alpha-thalassemia (10.3%), skeletal dysplasia (4%), arthrogryposis multiplex syndromes (1.8%), multiple pterygium syndrome (1.5%), and lysosomal storage disorders (1.0%). "
04/01/1951 - "[The pterygium syndrome; status Bonnevie-Ullrich, dystrophia brevicollis congenita, Turner's syndrome and congenital arthromyodysplasia]."
01/01/2008 - "The first disease associations were with nemaline myopathy, but recently other congenital myopathies ('cap disease', congenital fiber type disproportion) and other clinical entities (distal arthrogryposis, multiple pterygium syndrome) have been linked to mutations. "
|9.||type 1 Pena Shokeir syndromeIBA
01/01/2006 - "Three had findings consistent with arthrogryposis multiplexa congenita (AMC), one had a fetal akinesia deformation sequence (FADS). "
07/01/1995 - "Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS)."
01/01/1991 - "Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence."
03/01/2015 - "Fetal akinesia deformation sequence syndrome (FADS, OMIM 208150) is characterised by decreased fetal movement (fetal akinesia) as well as intrauterine growth restriction, arthrogryposis, and developmental anomalies (eg, cystic hygroma, pulmonary hypoplasia, cleft palate, and cryptorchidism). "
03/01/2012 - "Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of arthrogryposis, fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma, pulmonary hypoplasia, cleft palate, cryptorchidism, cardiac defects and intestinal malrotation, and occasional pterygia of the limbs. "
|10.||amsonic acid (DAS)IBA
01/01/2015 - "DAs are mostly described as autosomal dominant disorders with variable expressivity and incomplete penetrance, but recently autosomal recessive pattern was reported in distal arthrogryposis type 5D. "
01/01/2015 - "Distal arthrogryposes (DAs) are a group of disorders that mainly involve the distal parts of the limbs and at least ten different DAs have been described to date. "
11/01/2014 - "Distal arthrogryposis syndromes (DAs) show wide clinical variability and overlapping clinical findings with the other DAs classified by Bamshad et al. . "
09/25/2013 - "Distal arthrogryposes (DAs), a clinically and genetically heterogeneous group of disorders characterized by congenital contractures with predominant involvement of the hands and feet, can be classified into at least 12 different forms. "
05/01/2007 - "Autosomal dominant distal arthrogryposes (DAs) are a group of muscle diseases characterized by congenital contractures of the limbs. "
12/01/2014 - "Reorientation osteotomy for the atypical clasp thumb in children with arthrogryposis."
10/16/2013 - "Medical records of all patients with the amyoplasia form of arthrogryposis who underwent carpal wedge osteotomy between 1994 and 2008 were reviewed. "
05/01/2012 - "Posterior elbow release and humeral osteotomy for patients with arthrogryposis."
09/01/1992 - "Skin expansion as preparation for an opening wedge osteotomy of the mid-foot in arthrogryposis."
02/01/2013 - "To assess the outcome of patients who underwent dorsal carpal wedge osteotomy (DCWO) for the treatment of wrist flexion deformities causing functional limitations resulting from arthrogryposis. "
07/01/1997 - "This external fixator is an efficient tool for correction of deformities in arthrogryposis."
12/01/2010 - "Surgical correction of knee flexion deformities by distal femoral extension osteotomy and/or Ilizarov external fixator was effective in improving the ambulation status of children with arthrogryposis. "
12/01/1997 - "Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet."
12/01/1997 - "We report a 2-year-old boy with phosphofructokinase deficiency presenting in the newborn period with congenital arthrogryposis and severe myopathy, who has had significant improvement on a ketogenic diet since its institution at 4 months of age. "
|5.||Activities of Daily Living (ADL)