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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

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

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".[1]

References

  1. Lumbopedal skin pedicle in an infant with the amniotic band syndrome: a Disorganization-like defect? Corona-Rivera, J.R., Corona-Rivera, E., Navarro-Ramírez, P., Castro-Hernández, J.F., Acosta-León, J., Corona-Rivera, A. Clin. Dysmorphol. (2003) [Pubmed]
 
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