TY  - JOUR
T1  - OLigophrenia in combination with congenital ichthyosis and spastic disorders
AU  - HORNER FA
Y1  - 1959/02/01
N1  - 10.1001/archpedi.1959.02070010252020
JO  - A.M.A. Journal of Diseases of Children
SP  - 250
EP  - 250
VL  - 97
IS  - 2
N2  - This interesting clinical syndrome has been thoroughly studied in the county of Västerbotton in the north of Sweden. The clinical picture is characterized by low-grade oligophrenia, pronounced ichthyosis, and evidence of spastic diaplegia. A detailed genealogic and geographic analysis suggested that this syndrome has its origin in a single gene mutation. This rather exhaustive study was undertaken and presented in detail in the hope that it would be of value to research workers as a study of analytic methods, pooling of case material, and a genetic analysis.At the time of preparation of this very exhaustive and detailed genetic analysis there had not previously been described a similar clinical picture in the literature. However, within the past two years, independent case reports appearing in neurologic and pediatric journals and dealing with cases of this type have been reported both from the United States and from England.It is felt that
SN  - 0096-6916
M3  - doi: 10.1001/archpedi.1959.02070010252020
UR  - http://dx.doi.org/10.1001/archpedi.1959.02070010252020
ER  -