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全鼻缺失的产前诊断。

Prenatal diagnosis of total arhinia.

作者信息

Cusick W, Sullivan C A, Rojas B, Poole A E, Poole D A

机构信息

Stamford Hospital, Division of Matemal-Fetal Medicine, CT 06612, USA.

出版信息

Ultrasound Obstet Gynecol. 2000 Mar;15(3):259-61. doi: 10.1046/j.1469-0705.2000.00081.x.

DOI:10.1046/j.1469-0705.2000.00081.x
PMID:10846785
Abstract

Complete or total arhinia, in which there is absence of the soft tissue of the nose, is extremely rare. The embryological origin of the defect is thought to be maldevelopment of the paired nasal placodes. Available neonatal case descriptions have reported the frequent coexistence of other facial anomalies. This report is the first to describe the antenatal diagnosis of total arhinia confirmed after delivery. Sonographic views of the fetal profile, showing an absence of the nose led to consideration of the diagnosis.

摘要

完全性或整体性无鼻畸形,即不存在鼻部软组织,极为罕见。该缺陷的胚胎学起源被认为是成对鼻基板发育不良。现有的新生儿病例描述报告了其他面部异常的频繁共存。本报告首次描述了经产后证实的完全性无鼻畸形的产前诊断。胎儿侧面的超声图像显示无鼻,从而引发了对该诊断的考虑。

相似文献

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Prenatal diagnosis of total arhinia.全鼻缺失的产前诊断。
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Second-trimester prenatal diagnosis of total arhinia.孕中期全鼻缺失的产前诊断
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Congenital Nasal Bones Agenesis: Report of a Rare Malformation.先天性鼻骨发育不全:一例罕见畸形的报告。
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Prenatal Diagnosis of Arhinia.无鼻畸形的产前诊断。
AJP Rep. 2022 Aug 6;12(2):e127-e130. doi: 10.1055/s-0042-1748521. eCollection 2022 Apr.
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Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.从没有鼻子出生的患者中洞察 GnRH 神经元的个体发生。
J Clin Endocrinol Metab. 2020 May 1;105(5):1538-51. doi: 10.1210/clinem/dgaa065.
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Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.先天性无眼和小眼球症的遗传学。第 2 部分:与先天性无眼-小眼球症相关的综合征。
Hum Genet. 2019 Sep;138(8-9):831-846. doi: 10.1007/s00439-018-1949-1. Epub 2018 Oct 30.
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Prenatal diagnosis of total arhinia by MRI.磁共振成像对全鼻缺失的产前诊断
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Congenital arhinia: A rare case.先天性无鼻:1例罕见病例。
Am J Case Rep. 2014 Mar 18;15:115-8. doi: 10.12659/AJCR.890072. eCollection 2014.
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[The rare malformation of nasal aplasia].[罕见的鼻发育不全畸形]
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