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

Clin Dysmorphol. 2003 Jan;12(1):51-4. doi: 10.1097/00019605-200301000-00009.

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".

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Amniotic Band Syndrome / pathology*
  • Animals
  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Mice
  • Mice, Mutant Strains
  • Skin Abnormalities / pathology*