胎儿左鼻孔发育与VACTERL相关:1例报告

Martha Martínez-Gómez, Elena Satorres-Pérez, A. Martínez-Varea
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引用次数: 0

摘要

VACTERL关联是一种罕见的条件与广泛共存的先天性异常。虽然多因素起源已被描述,但病因尚不清楚。产前诊断可能具有挑战性,因为具体特征可能难以在出生前确定。本病例报告描述了在妊娠30周的男性胎儿中发现的多种先天性异常。最显著的表现为十二指肠狭窄、食管闭锁伴气管远端食管瘘(3型)、房间隔交通卵圆孔、左鼻孔和气管发育不全。出生后,并作出广泛的鉴别诊断,所有这些特征的诊断指向VACTERL关联。据我们所知,没有病例VACTERL关联和单侧鼻孔和支气管发育不全以前被描述过。
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Left Nostril Agenesis in a Fetus with VACTERL Association: A Case Report
VACTERL association represents a rare condition with a broad spectrum of coexisting congenital abnormalities. Although a multifactorial origin has been described, the etiology is still unclear. Prenatal diagnosis can be challenging, as specific characteristics may be difficult to be determined before birth. This case report describes the finding of multiple congenital abnormalities in a male fetus at 30 weeks of gestation. The most notable findings were the presence of duodenal stenosis, esophageal atresia with distal tracheoesophageal fistula (type 3), interatrial septal communication foramen ovale, and left nostril and choana agenesis. After birth and making a broad differential diagnosis, all these characteristics oriented the diagnosis towards the VACTERL association. To the best of our knowledge, no cases of VACTERL association and unilateral nostril and choana agenesis have been previously described.
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