Atypical Prader-Willi syndrome with severe developmental delay and emaciation

A young boy showed features of Prader-Willi syndrome including hypotonia, cryptorchidism, a mildly dysmorphic facial appearance, a high-arched palate and an open triangular-shaped mouth, but had additional symptoms such as simian creases and multiple joint ankylosis in early infancy. Deletion of the long arm of chromosome 15(q11.2 to q13) was recognized. A muscle biopsy specimen showed variation in fiber size with hypertrophic type 1 fibers, type 2 fiber smallness, type 2B fiber paucity and an increased number of type 2C fibers. At the age of 4 1/2 years, he still showed severe developmental delay with severe muscle hypotonia, weakness and emaciation.