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.
Miike
T
T
Department of Child Development, Kumamoto University Medical School, Japan.
Ogata
T
T
Ohtani
Y
Y
Yamaguchi
H
H
Yokoyama
Y
Y
D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D002658:Developmental Disabilities / Q000209:etiology*; D004614:Emaciation / Q000209:etiology*; D006801:Humans; D007621:Karyotyping; D008297:Male; D011218:Prader-Willi Syndrome / Q000235:genetics