[Craniofacial dysmorphism with flexion of the fingers. Marden-Walker syndrome?].
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.
D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000503:physiopathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000503:physiopathology*; D009122:Muscle Hypertonia / Q000151:congenital; D013577:Syndrome
Dysmorphie crânio-faciale avec flexion des doigts. Syndrome de Marden-Walker?