Lumbopedal skin pedicle in an infant with the amniotic band syndrome: a Disorganization-like defect?
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Published on: June 24, 2020
Jorge Román Corona-Rivera1, Enrique Corona-Rivera, Pedro Navarro-Ramírez
1Laboratorio de Genética Humana y Clínica de Asesoramiento Genético, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Sierra Mojada 950, Colonia Independencia, C.P. 44340, Guadalajara, Jal., México. rocorona@cucs.udg.mx
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".
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