Abstract
IntroductionArthrogryposis multiplex congenital (AMC) is characterized by contractions of multiple joints present at birth. The involved muscles are partially or totally replaced by fat or fibrous tissue. Talipes equinovarus and scoliosis are also frequently reported.Case presentationThis 2 year was born after uneventful pregnancy, with normal birth weight and length. The parents are unrelated, young and healthy. No malformations or mental retardation have been reported in the family. Since his birth a specific posture was noted: internal rotation at the shoulders, extension at the elbows, and flexion at the wrists. In addition, the child has a severe equinovarus deformity of the feet. Syndactily between II and III finger was also noted. His face is round with a frontal midline capillary hemangioma, while his jaw appears to be small. Mental development is normal. The karyotype is: 46, XY.ConclusionsAbout 150 syndromes have arthrogryphosis as a presenting sign. AMC is a distinct entity and distinction with the distal forms of arthrogryphosis can be difficult, since there is a considerable clinical and genetic heterogeneity. A comprehensive musculoskeletal evaluation and genetic consultation is necessary.
Highlights
Arthrogryposis multiplex congenital (AMC) is characterized by contractions of multiple joints present at birth
The frequency of the phenomenon stems from the fact that arthrogryphosis can be a syndrome per se, or it can be a part of many other syndromes, malformations or muscular or neurological conditions
We here present a child with arthrogryphosis congenital multiplex (AMC) and its delineation from the other arthrogryphosis conditions, in particular with the syndromes of the distal arthrogryphosis (DA)
Summary
AMC is a distinct entity that needs to be delineated from the other arthrogryphosis types (~10 types so far) and. Http://www.casesjournal.com/content/2/1/9403 other syndromes in which stiff joints are a part of the phenotype (~150 syndromes). The distinction with the distal forms of arthrogryphosis can be challenging. A considerable clinical and genetic heterogeneity is noted in almost all arthrogryphosis types. A comprehensive musculoskeletal evaluation and genetic consultation is necessary. Written informed consent was obtained from the father of the patient for publication of this case report
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
