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单羊膜囊双胎之一患有脊柱裂囊肿型和重度先天性双侧马蹄内翻足:一例报告

Spina bifida cystica and severe congenital bilateral talipes equinovarus in one twin of a monoamniotic pair: a case report.

作者信息

Kadia Benjamin Momo, Aroke Desmond, Tianyi Frank-Leonel, Bechem Ndemazie Nkafu, Dimala Christian Akem

机构信息

Foumbot District Hospital, Foumbot, Cameroon.

Grace Community Health and Development Association, Kumba, Cameroon.

出版信息

BMC Res Notes. 2017 Dec 28;10(1):771. doi: 10.1186/s13104-017-3108-5.

Abstract

BACKGROUND

Spina bifida and congenital talipes equinovarus (CTEV) are common congenital malformations which may occur together and increase morbidity. Monozygous twins are particularly at risk of these malformations and discordance in one type of malformation is typical. The occurrence of both spina bifida and CTEV in one twin of a monozygotic pair is rare.

CASE PRESENTATION

A 22 year-old Cameroonian primigravida at 36 weeks of a twin gestation was received in our district hospital at the expulsive phase of labour on a background of sub-optimal antenatal care. A caesarean section indicated for cephalo-pelvic disproportion was performed and life monoamniotic male twins were extracted. The first twin was normal. The second twin had spina bifida cystica and severe bilateral CTEV. Routine postnatal care was ensured and at day 2 of life, the affected twin was evacuated to a tertiary hospital for proper management. He was later on reported dead from complications of hydrocephalus.

CONCLUSIONS

Spina bifida cystica with severe bilateral CTEV in one twin of a monoamniotic pair illustrates the complexity in the interplay of causal factors of these malformations even among monozygotic twins who are assumed to share similar genetic and environmental features. The occurrence and poor outcome of the malformations was probably potentiated by poor antenatal care. With postnatal diagnoses, a better outcome was difficult to secure even with prompt referral. Early prenatal diagnoses and appropriate counseling of parents are cardinal.

摘要

背景

脊柱裂和先天性马蹄内翻足(CTEV)是常见的先天性畸形,可能同时发生并增加发病率。单卵双胞胎尤其容易出现这些畸形,而且一种畸形不一致是很典型的。单卵双胞胎中的一个同时出现脊柱裂和CTEV的情况很少见。

病例报告

一名22岁的喀麦隆初产妇,孕36周,双胎妊娠,在产前护理欠佳的情况下,于分娩期被送至我们地区医院。因头盆不称行剖宫产,娩出单绒毛膜双胎男婴。第一个胎儿正常。第二个胎儿患有脊髓脊膜膨出和严重双侧CTEV。给予常规产后护理,出生第2天,将患病胎儿转至三级医院进行妥善治疗。后来报告其因脑积水并发症死亡。

结论

单绒毛膜双胎中的一个患有脊髓脊膜膨出合并严重双侧CTEV,这表明即使在被认为具有相似遗传和环境特征的单卵双胞胎中,这些畸形的因果因素相互作用也很复杂。产前护理欠佳可能加剧了畸形的发生和不良后果。即使产后及时转诊,也难以确保获得更好的治疗效果。早期产前诊断和对父母进行适当的咨询至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4796/5745804/410db608e686/13104_2017_3108_Fig1_HTML.jpg

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