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

S F Slaney; W K Chong; R M Winter

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

Clin Dysmorphol. 1999 Jan;8(1):5-9.

Authors

S F Slaney¹, W K Chong, R M Winter

Affiliation

¹ Department of Clinical Genetics, Institute of Child Health, London, UK.

PMID: 10327244

Abstract

We report on a male infant with distinctive facial features, short stature and rhizomelic upper limb shortening. His MRI brain scan showed abnormal ventricular architecture and bilateral periventricular nodular grey matter heterotopia (BPNH). This child represents an apparently new dysmorphic syndrome.

Publication types

Case Reports

MeSH terms

Body Height*
Cerebral Ventricles / abnormalities*
Facies*
Humans
Infant, Newborn
Magnetic Resonance Imaging
Male
Syndrome