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September 26, 1966

Brief Reports Presented In Chicago

JAMA. 1966;197(13):39-40. doi:10.1001/jama.1966.03110130017005

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Before genetic counseling of. the parents of a supposed mongoloid is undertaken, the diagnosis should be confirmed by more than classical physical and mental criteria.

This is the suggestion of Roswell Eldridge, MD, and Victor McKusick, MD, who in a recent survey found six instances of familial "pseudomongolism." Although retarded and carrying many of the signs of mongolism, these children and young adults exhibited normal karyotypes and dermatoglyphics.

Pseudomongolism may be an autosomal recessive trait rather than the chromosome 21-22 anomaly that is the basis of Down's syndrome.

Early replacement therapy with human growth hormone (HGH) may obtain complete phenotypic reversal of a form of dwarfism called sexual ateliosis, a study by investigators at Johns Hopkins University School of Medicine suggests.

Sexual ateliosis is characterized, despite the dwarfism, by normal body proportions and sexual maturation and normal birth weight and length.

For many years sexual ateliotics were regarded as "primordial