Gustavson et al. (1984) reported a girl with a developmental history and features typical of Prader-Willi syndrome (PWS; 176270), including muscular hypotonia that was severe in infancy, pronounced early childhood obesity, small hands and feet, shortness of the ... Gustavson et al. (1984) reported a girl with a developmental history and features typical of Prader-Willi syndrome (PWS; 176270), including muscular hypotonia that was severe in infancy, pronounced early childhood obesity, small hands and feet, shortness of the fifth fingers relative to the other digits, facial changes, and retarded psychomotor development. She did not have short stature; the authors commented that patients with PWS occasionally have normal stature until later childhood. The patient previously reported by Gustavson et al. (1984) was reexamined at 29 years of age by Mansouri et al. (2005), at which time they reported that her PWS-like features had disappeared with age. She was no longer obese, but was of average height and weight, and had severe psychomotor retardation with an IQ of 30. She had epileptic seizures beginning at 4 years of age. She had a dysmorphic facial appearance with a small nose, epicanthal folds, high-arched palate, large front teeth, low posterior hairline, small hands with clinodactyly of the fifth fingers, and small feet in planovalgus position. She was unable to speak and required help with daily self-care.