Marden-Walker syndrome

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

Myotonia

An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.


Total: 1

                       


(per page)
PMID (PMCID)
8923937
 MIXED_SAMPLE Adult
Extending the spectrum of distal arthrogryposis.
Gripp KW, Scott CI Jr, Brockett BC, Nicholson L, Mackenzie WG.
Am J Med Genet. 1996;65(4):286-90.
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.