Infrequent association of two rare diseases: amniotic band syndrome and osteogenesis imperfecta

IF 0.1 Q4 OBSTETRICS & GYNECOLOGY

Case Reports in Perinatal Medicine Pub Date : 2021-01-01 DOI:10.1515/crpm-2021-0035

S. Darakci, S. Ertuğrul, S. Tanrıverdi Yılmaz, E. Ünal, İ. Yolbaş, I. Deger

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引用次数: 1

Abstract

Abstract Objectives Amniotic band syndrome and osteogenesis imperfecta are two distinct diseases that develop due to structural defects of the collagen protein. In our paper, we report the concurrence of these two diseases rarely seen in the newborn period. Case presentation A female infant born at 33rd gestational week was found to have constrictive bands in her right lower extremity and flexion contractures in distal joints of lower and upper extremities due to amniotic bands in postnatal physical examination. While being treated for respiratory difficulty, she was diagnosed with osteogenesis imperfecta and treated with bisphosphonates upon being found to suffer bilateral humeral fractures on the sixth day of life. She received respiratory support with mechanical ventilation due to respiratory tract complications related to osteogenesis imperfecta and died on the 384th day of life. Conclusions One should bear in mind that other collagen tissue diseases may accompany the amniotic band syndrome; this possibility should be definitely pursued if clinical suspicion exists.

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两种罕见疾病的罕见关联:羊膜带综合征和成骨不全症

摘要目的羊膜带综合征和成骨不全是由于胶原蛋白结构缺陷引起的两种不同的疾病。在我们的论文中，我们报告了这两种疾病在新生儿时期罕见的并发。病例介绍1例孕33周出生的女婴，在产后体检中发现右下肢有缩窄带，下肢和上肢远端关节因羊膜带而屈曲挛缩。在治疗呼吸困难期间，她被诊断为成骨不全症，并在出生第6天被发现患有双侧肱骨骨折，并使用双磷酸盐治疗。患者因成骨不全引起的呼吸道并发症接受机械通气呼吸支持，于生后第384天死亡。结论应注意，其他胶原组织疾病可能伴随羊膜带综合征;如果存在临床怀疑，则应明确追究这种可能性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Case Reports in Perinatal Medicine OBSTETRICS & GYNECOLOGY-

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期刊介绍： Case Reports in Perinatal Medicine is a double-blind peer-reviewed journal. The objective of the new journal is very similar to that of JPM. In addition to evidence-based studies, practitioners in clinical practice esteem especially exemplary reports of cases that reveal specific manifestations of diseases, its progress or its treatment. We consider case reports and series to be brief reports describing an isolated clinical case or a small number of cases. They may describe new or uncommon diagnoses, unusual outcomes or prognosis, new or infrequently used therapies and side effects of therapy not usually discovered in clinical trials. They represent the basic concept of experiences for studies on representative groups for further evidence-based research. The potential roles of case reports and case series are: Recognition and description of new diseases Detection of drug side effects (adverse or beneficial) Study of mechanisms of disease Medical education and audit Recognition of rare manifestations of disease.