Holoprosencephaly and limb reduction defects: a consideration of Steinfeld syndrome and related conditions.

Individuals with holoprosencephaly (HPE) and limb reduction defects have been ascribed historically to a variety of syndromes with overlapping phenotypic features. As such, these patients are challenges for clinicians and researchers alike. In an effort to better understand this association, we reviewed our autopsy records and identified five cases of HPE with reduction defects of the limbs and other anomalies.