Abstract
A 14 8/12-year-old girl with DeSanctis-Cacchione syndrome, characterized by photosensitive freckle-like lesions, microcephaly, mental retardation, sensorineural type deafness, choreoathetosis, and small stature is presented. Endocrine studies revealed normal plasma hGH levels following provocation tests and normal plasma somatomedin levels. A defect in end organ response to somatomedin is suggested as the responsible factor leading to the severe retardation in growth.
Keywords: DeSanctis-Cacchione syndrome, deafness, growth retardation, microcephaly, xeroderma pigmentosum
Copyright and license
Copyright © 1982 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.
