Extending the spectrum of distal arthrogryposis.
Publication/Presentation Date
11-11-1996
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.
Volume
65
Issue
4
First Page
286
Last Page
290
ISSN
0148-7299
Published In/Presented At
Gripp, K. W., Scott, C. I., Jr, Brockett, B. C., Nicholson, L., & Mackenzie, W. G. (1996). Extending the spectrum of distal arthrogryposis. American journal of medical genetics, 65(4), 286–290. https://doi.org/10.1002/(SICI)1096-8628(19961111)65:4<286::AID-AJMG8>3.0.CO;2-N
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
8923937
Department(s)
Department of Pediatrics
Document Type
Article