LACHT syndrome, or Mardini–Nyhan association, is an ultra‐rare disorder, diagnosed solely by the clinical characteristics of lung agenesis, complex cardiac defects, and thumb anomalies. Only 12 patients have been reported worldwide, and here, we report a new clinical diagnosis of LACHT syndrome. Our patient was a male full‐term newborn with left lung agenesis, congenital heart defects including ventricular septal defect, right‐sided aortic arch, with aberrant left subclavian artery and Kommerell diverticulum, as well as left preaxial polydactyly and hemivertebra. Our patient appears to be the second LACHT syndrome case to also suffer from tracheal stenosis, which has only been reported once before in conjunction with this syndrome. In light of this, tracheal stenosis may be a phenotype for LACHT syndrome.

中文翻译：

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LACHT综合征（Mardini-Nyhan协会）与泰国新生儿气管狭窄相关。

LACHT综合征，即Mardini–Nyhan协会，是一种罕见的疾病，仅通过肺部发育不全，复杂的心脏缺陷和拇指异常的临床特征进行诊断。全球仅报告了12位患者，在这里，我们报告了LACHT综合征的新临床诊断。我们的患者是男性足月新生儿，具有左肺发育不全，先天性心脏缺陷，包括室间隔缺损，右侧主动脉弓，左锁骨下动脉和Kommerell憩室异常，以及左前轴多指和半椎骨。我们的患者似乎是第二例也患有气管狭窄的LACHT综合征患者，此前仅与该综合征合并报道过一次。有鉴于此，气管狭窄可能是LACHT综合征的表型。