ABSENT NAILS, KINESOGENIC CHOREOATHETOSIS, EPILEPSY AND DEVELOPMENTALDELAY - A NEW AUTOSOMAL-DOMINANT DISORDER

Authors
LYNCH SA GARDNERMEDWIN D BURN J BUSHBY KMD
Citation
Sa. Lynch et al., ABSENT NAILS, KINESOGENIC CHOREOATHETOSIS, EPILEPSY AND DEVELOPMENTALDELAY - A NEW AUTOSOMAL-DOMINANT DISORDER, Clinical dysmorphology, 6(2), 1997, pp. 133-138
Citations number
9
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical dysmorphology → ACNP
ISSN journal
09628827
Volume
6
Issue
2
Year of publication
1997
Pages
133 - 138
Database
ISI
SICI code
0962-8827(1997)6:2<133:ANKCEA>2.0.ZU;2-X
Abstract
We report a mother and two sons with developmental delay, absent nails and an abnormal gait. Review of the literature did not reveal another report of this distinctive pattern of malformations. This family appe ars to represent a previously undescribed neurogenetic syndrome.