title: Extending the spectrum of distal arthrogryposis.
abstract: We describe a mother and son with multiple, non-progressive, congenital contractures, camptodactyly and absent flexion creases, expressionless face, blepharophimosis, microstomia, and short stature. Although these cases share similarities with the autosomal-recessive Schwartz-Jampel and Marden-Walker syndromes, they have a different mode of inheritance and lack myotonia, one of the most characteristic findings of the Schwartz-Jampel syndrome. Our cases most closely resemble those previously reported as distal arthrogryposis type IIb, although in our patients the proximal joints are severely affected and extraocular involvement is absent. Hearing loss is present in one and cleft palate in the other of our patients; these findings were previously described in arthrogryposis syndromes other than type IIb. We suggest extending the spectrum of distal arthrogryposis to include these manifestations, since there appears to be significantly overlap between the different syndromes.
authors.affiliation: Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
authors.forename: K W
authors.initials: KW
authors.lastname: Gripp
authors.forename: C I
authors.initials: CI
authors.lastname: Scott
authors.forename: B C
authors.initials: BC
authors.lastname: Brockett
authors.forename: L
authors.initials: L
authors.lastname: Nicholson
authors.forename: W G
authors.initials: WG
authors.lastname: Mackenzie
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology*; D000328:Adult; D001176:Arthrogryposis / Q000235:genetics / Q000503:physiopathology*; D005145:Face / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics / Q000503:physiopathology*; D006228:Hand Deformities, Congenital / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D008297:Male