Corona-Rivera Jorge Román, Corona-Rivera Enrique, Navarro-Ramírez Pedro, Castro-Hernández J Francisco, Acosta-León Jorge, Corona-Rivera Alfredo
Laboratorio 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.
Clin Dysmorphol. 2003 Jan;12(1):51-4. doi: 10.1097/00019605-200301000-00009.
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".
本文报告了一名女婴，其患有羊膜带综合征（ABS）中不常见的异常，包括通过皮肤蒂形成的非解剖性腰骶联合、肛门直肠畸形、脊膜膨出、椎体节段性缺陷、肢体纵向缺陷、残留足和皮肤乳头。先证者中不寻常的、与带无关的畸形与小鼠突变体无序（Ds）相似。本报告支持这样的观点，即类似Ds的突变可能导致一些伴有“皮肤蒂”的明显ABS病例。
