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

1 January 1999

journal article
case report
Published by Wolters Kluwer Health in Clinical Dysmorphology

Vol. 8 (1) , 5???10-10
https://doi.org/10.1097/00019605-199901000-00002

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.

Keywords

ARCHITECTURE
INFANT
MALE
CHILD
STATURE
SHORTENING
ABNORMAL
NODULAR
FACIAL
DISTINCTIVE

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