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唐氏综合征患者因羊膜带导致先天性巨结肠和胸肢截肢:一例报告

Hirschprung's Disease and Thoracic Limb Amputation by Amniotic Bands in a Patient With Down Syndrome: A Case Report.

作者信息

Hernández-Ramírez Rosario, Ayala-Madrigal María de la Luz, Macias Trinidad Laura, Luna Romero Guadalupe Delia, Monterrubio Ledezma César Eduardo

机构信息

Department of Molecular Biology and Genomics University of Guadalajara Guadalajara Mexico.

Genetics Area and Cytogenetics Laboratory of the Down Clinic, Special Care Clinic DIF Guadalajara Mexico.

出版信息

Clin Case Rep. 2025 Sep 2;13(9):e70837. doi: 10.1002/ccr3.70837. eCollection 2025 Sep.

Abstract

Down syndrome is a risk factor for Hirschsprung's disease. However, the amniotic band sequence does not directly correlate. We present a patient with Down syndrome and associated Hirschsprung's disease, who exhibited findings consistent with amniotic band sequence. This represents the first description of these three conditions in a single patient.

摘要

唐氏综合征是先天性巨结肠症的一个风险因素。然而,羊膜带序列与之并无直接关联。我们报告了一名患有唐氏综合征及相关先天性巨结肠症的患者,其表现出与羊膜带序列相符的症状。这是首次对单一患者身上这三种病症的描述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/140b/12405050/e363e33c70a5/CCR3-13-e70837-g001.jpg

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