Summary
Bonnemann-Meinecke-Reich syndrome is marked by a combination of developmental and growth anomalies: encephalopathy with mild intellectual deficit, dysmorphism, craniosynostosis, and small stature due to growth hormone deficiency. This syndrome has been described in only two families, with each family containing two affected sibs. The onset of the disease may occur during the first year of life with retardation of motor development, spasticity, and retinal degeneration. Cerebral images show calcification of the lenticular nuclei and sometimes ventriculomegaly. *Author: Orphanet (May 2004)*.
