We report a man and his son with congenital limb contractures, limitation of ocular movements, and an electroretinal abnormality. They appear to have an autosomal dominant form of arthrogryposis, distinguishable from other previously classified forms of this disorder.

A case of arthrogryposis multiplex congenita distal type II associated with facial abnormality, renal abnormality, postaxial poydactyly and Hirschprung's disease is described. It appears to be a new form of an autosomal recessive disorder.

Arthrogryposis multiplex congenita is a collective term applied to a very large number of different syndromes characterised by non-progressive, multiple joint contractures present at birth. [1, 2]The joints usually develop normally in early embryonic life but, as gestation progresses, movements are required to facilitate normal development. Where there are abnormalities that prevent this from o...

Background. Arthrogryposis Multiplex Congenita, AMC, is a heterogeneous condition defined as multiple congenital joint contractures in two or more body areas. The pathogenesis is impaired fetal movements. Amyoplasia, the most frequent form, is a sporadically occurring condition with hypoplastic muscles and joint contractures. Distal arthrogryposis (DA) syndromes are often hereditary, and joint ...

Arthrogryposis multiplex congenita is a collective term applied to a very large number of different syndromes characterised by non-progressive, multiple joint contractures present at birth. [1, 2]The joints usually develop normally in early embryonic life but, as gestation progresses, movements are required to facilitate normal development. Where there are abnormalities that prevent this from o...

A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyl...

BACKGROUND Lethal multiple pterygium syndrome (LMPS, OMIM 253290), is a fatal disorder associated with anomalies of the skin, muscles and skeleton. It is characterised by prenatal growth failure with pterygium present in multiple areas and akinesia, leading to muscle weakness and severe arthrogryposis. Foetal hydrops with cystic hygroma develops in affected foetuses with LMPS. This study aimed ...