Publication: LACHT syndrome (Mardini–Nyhan association) with tracheal stenosis in a Thai newborn
Issued Date
2020-01-01
Resource Type
ISSN
15524833
15524825
15524825
Other identifier(s)
2-s2.0-85087692467
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Mahidol University
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SCOPUS
Bibliographic Citation
American Journal of Medical Genetics, Part A. (2020)
Suggested Citation
Kitiwan Rojnueangnit, Sudatip Kositamongkol, Wanida Paoin, Araya Satdhabudha, Onsuthi Pharadornuwat, Ratthapon Wongwandee, Weerin Thammachote, Natini Jinawath LACHT syndrome (Mardini–Nyhan association) with tracheal stenosis in a Thai newborn. American Journal of Medical Genetics, Part A. (2020). doi:10.1002/ajmg.a.61746 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/57760
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Title
LACHT syndrome (Mardini–Nyhan association) with tracheal stenosis in a Thai newborn
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.