[Craniofacial dysmorphism with flexion of the fingers. Marden-Walker syndrome?].Sem Hop. 1982 Nov 11; 58(41):2405-7.SH
The Marden-Walker syndrome was first described in 1966. The main features are microcephaly, peculiar facies due to blepharophimosis, micrognathia, low-set ears, joint contractures, muscular hypotonia, growth failure, and developmental delay. We report the case of a child presenting with almost all of these features, but with muscular hypertonia. Differential diagnosis includes Schwartz-Jampel syndrome. Pathogenesis is unknown.