ICHTHYOSIS-CHARACTERISTIC APPEARANCE-MENTAL RETARDATION SYNDROME WITHDISTINCT HISTOLOGICAL SKIN ABNORMALITIES

Authors
DEVRIENDT K VANDENOORD J DEVOS R VANDENBERGHE H FRYNS JP
Citation
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
Citations number
11
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
61
Issue
2
Year of publication
1996
Pages
127 - 130
Database
ISI
SICI code
0148-7299(1996)61:2<127:IARSW>2.0.ZU;2-6
Abstract
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.