K. Devriendt et al., ICHTHYOSIS-CHARACTERISTIC APPEARANCE-MENTAL RETARDATION SYNDROME WITHDISTINCT HISTOLOGICAL SKIN ABNORMALITIES, American journal of medical genetics, 61(2), 1996, pp. 127-130
In this report, we describe a 2.5-year-old severely mentally retarded
boy with peculiar appearance and generalized ichthyosis, born to consa
nguineous Turkish parents, The histological finding in the skin biopsy
of unusually large oval keratohyalin granules in the granular cells i
s unique, and hitherto has not been reported in other ichthyosis-menta
l retardation syndromes. (C) 1996 Wiley-Liss, Inc.