A new syndrome of short stature, distinctive facial features and periventricular grey matter heterotopia.
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.
D001827:Body Height; D002552:Cerebral Ventricles / Q000002:abnormalities*; D019066:Facies; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome