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".

• Authors: Jorge Román Corona-Rivera, Enrique Corona-Rivera, Pedro Navarro-Ramírez, J Francisco Castro-Hernández, Jorge Acosta-León, Alfredo Corona-Rivera
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 12 Issue 1 Pg. 51-4 (Jan 2003) ISSN: 0962-8827 [Print] England
• PMID: 12514366 (Publication Type: Case Reports, Journal Article)

Topics

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