Hypotonia, mental retardation, obesity, and cryptorchidism associated with dwarfism and diabetes in children.

From the Derbyshire Children's Hospital, DerbyThe baby who is 'floppy' at birth invariably poses a diagnostic problem, but over the past few years new descriptions of associated clinical patterns have differentiated certain groups of disorders.One such group, only recognized during the past ten years, is presented here.In 1956 some Swiss children were described: all were floppy at birth, had a similar facial appearance and later became obese, dwarfed, and mentally retarded (Prader, Labhart, Willi, and Fanconi, 1956b).There were both boys and girls in this group, but the boys had the additional feature of poorly developed genitalia.Some of the children developed diabetes around puberty.By 1961 a total of 14 Swiss children with this combination of disorders had been reported (Prader and Willi, 1961), and at the same time 6 similarly affected children were described in England (Laurance, 1961).Other reports from various parts of the world suggest that this is probably a relatively common syndrome, which has been confirmed by several colleagues who have kindly discussed these patients with me: 4 patients from Canada (Dunn, Ford, Auersperg, and Miller, 1961; Dunn and Miller, 1963), 1 from Sweden (Forssman and Hagberg, 1964), and 8 others from England (Evans, 1964) make up the total number of patients so far reported to 36, including those described here.Case Histories All 9 children were born to healthy, non-consanguine- ous parents whose forbears were also healthy.All sibs of tho patients were normal.Table I details ages and heights of thz parents when the patients were born.Case 1 (Male).The youngest of three children, born September 1954 by a rapid but uncomplicated breech delivery; birthweight 2900 g. (6 lb. 5 oz.).His mother