Department of Pediatrics, Faculty of Medicine, Thammasat University, Pathum Thani, Thailand.
Program in Translational Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Nakhon Pathom, Bangkok, Thailand.
Am J Med Genet A. 2020 Sep;182(9):2175-2180. doi: 10.1002/ajmg.a.61746. Epub 2020 Jul 9.
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.
LACHT 综合征，或称为 Mardini-Nyhan 综合征，是一种极为罕见的疾病，仅通过肺发育不全、复杂心脏缺陷和拇指异常这三种临床特征进行诊断。目前全世界仅报道了 12 例病例，在此我们报告一例 LACHT 综合征的新的临床诊断。我们的患者是一名男性足月新生儿，患有左肺发育不全、先天性心脏病，包括室间隔缺损、右位主动脉弓，伴左锁骨下动脉异常和 Kommerell 憩室，以及左侧桡侧多指向畸形和半椎体。我们的患者似乎是第二个患有气管狭窄的 LACHT 综合征病例，此前仅与该综合征一起报道过一例。鉴于此，气管狭窄可能是 LACHT 综合征的一种表型。
