A new syndrome of short stature, distinctive facial features and periventricular grey matter heterotopia

Authors
Slaney, SF Chong, WK Winter, RM
Citation
Sf. Slaney et al., A new syndrome of short stature, distinctive facial features and periventricular grey matter heterotopia, CLIN DYSMOR, 8(1), 1999, pp. 5-9
Citations number
13
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
CLINICAL DYSMORPHOLOGY
ISSN journal
09628827 → ACNP
Volume
8
Issue
1
Year of publication
1999
Pages
5 - 9
Database
ISI
SICI code
0962-8827(199901)8:1<5:ANSOSS>2.0.ZU;2-#
Abstract
We report on a male infant with distinctive facial features, short stature and rhizomelic upper limb shortening. His MRI brain scan showed abnormal ve ntricular architecture and bilateral periventricular nodular grey matter he terotopia (BPNH). This child represents an apparently new dysmorphic syndro me. Clin Dysmorphol 8: 5-9 (C) 1999 Lippincott Williams & Wilkins.