一个罕见病例的挑战和治疗方法。

IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY
Daria Sosińska, Andrzej Gołębiewski, Piotr Czauderna
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引用次数: 0

摘要

简介:肢侧畸形是一种非常罕见的先天性结构异常,其特征是身体尾侧区域发育异常,伴有不同程度的下肢融合。大多数情况下,这种情况对婴儿来说是致命的。大多数婴儿即使在手术后也无法存活。50%的病例被视为死产,在同卵双胞胎中更为常见。病例报告:我们报告一例出生在妊娠第38周的男婴(妊娠hebdomas gravidatistis - hbd),诊断为先天性子宫裂、小头畸形、双侧肾发育不全、十二指肠闭锁、肛门闭锁和外生殖器发育不全。我们提供了一个简短的文献回顾和讨论有关类似的情况下,决定因素,发病机制和怀疑遗传因素。结论:由于伴发畸形,鼻臭症常常无法治疗。避免危险因素,早期诊断,多学科方法和家长的心理准备,帮助他们在情感上和精神上应对挑战,似乎是管理的关键因素。产前超声检查诊断此病对进行终止妊娠具有重要意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Sirenomelia—Challenges and Treatment Approach in a Rare Case

Introduction

Sirenomelia is a very rare congenital structural anomaly characterized by abnormal development of the caudal region of the body with varying degrees of fusion of lower limbs. Mostly, the condition is lethal for the baby. Most babies do not survive even after surgery. Fifty percent of cases are seen as stillbirths, and it is much more common in identical twins.

Case Report

We present a case of a boy born in 38th week of gestation (hebdomas graviditatis—HBD) with diagnosed sirenomelia, microcephaly, bilateral renal agenesis, duodenal atresia, imperforate anus, and agenesis of external genitalia. We provide a brief review of the literature and discussion concerning similar cases, determinants, pathogenesis and suspected genetic factors.

Conclusions

Due to accompanying malformations, there is often no treatment for sirenomelia. Avoidance of risk factors, early diagnosis, multidisciplinary approach and psychological preparation of parents to help them cope emotionally and mentally with the challenges, seem to be the key factors of management. It is very important to diagnose this condition by ultrasonography prenatally so that termination of pregnancy can be carried out.

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来源期刊
Birth Defects Research
Birth Defects Research Medicine-Embryology
CiteScore
3.60
自引率
9.50%
发文量
153
期刊介绍: The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.
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