Portal de Periódicos da CAPES

Congenital myopathy with oculo‐facial abnormalities (Marden‐Walker syndrome)

1991; Wiley; Volume: 39; Issue: 4 Linguagem: Inglês

10.1002/ajmg.1320390402

1096-8628

N Linder, Israel Mathot, Alexander Livoff, Joseph Glass, Ilan Bornstein, Eva Groß, Shaul Yatsiv, Annemarie Sommer,

Biochemical and Molecular Research

Abstract Marden‐Walker syndrome present in the neonatal period is characterized by oculo‐facial abnormalities, congenital myopathy, and contractures. A newborn infant with a similar pattern of anomalies is reported, and further evidence for autosomal recessive inheritance as well as new neuropathological findings are included.