Large-scale deletions in a Chinese infant associated with a variant form of Werdnig-Hoffmann disease

A Chinese male infant with arthrogryposis multiplex congenita (AMC), ventricular and atrial septal defects, and Werdnig-Hoffmann disease (WHD) had deletions of the telomeric copy of the survival motor neuron (SMN(T)) and neuronal apoptosis inhibitory protein genes. Children with AMC or congenital heart disease, or both, and motor neuron disease should undergo testing for SMN(T) deletion. This rare association further illustrates the variable phenotypic expressions of WHD.