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|Title:||LACHT syndrome (Mardini–Nyhan association) with tracheal stenosis in a Thai newborn|
Faculty of Medicine, Ramathibodi Hospital, Mahidol University
|Keywords:||Biochemistry, Genetics and Molecular Biology;Medicine|
|Citation:||American Journal of Medical Genetics, Part A. (2020)|
|Abstract:||© 2020 Wiley Periodicals LLC 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.|
|Appears in Collections:||Scopus 2020|
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