Lumbopedal skin pedicle in an infant with the amniotic band syndrome: A Disorganization-like defect?

Abstract

A female infant is presented in whom anomalies not commonly seen in amniotic band syndrome (ABS) included non-anatomic lumbopedal union by a skin pedicle, anorectal malformation, meningocele, vertebral segmentation defects, longitudinal limb defects, vestigial feet and skin papillae. The unusual, non-band related malformations in the proposita showed similarity to the mouse mutant Disorganization (Ds). This report, supports the suggestion that Ds-like mutations may cause some cases with apparent ABS associated with 'skin pedicles'. © 2003 Lippincott Williams & Wilkins.