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Title: LACHT syndrome (Mardini–Nyhan association) with tracheal stenosis in a Thai newborn
Authors: Kitiwan Rojnueangnit
Sudatip Kositamongkol
Wanida Paoin
Araya Satdhabudha
Onsuthi Pharadornuwat
Ratthapon Wongwandee
Weerin Thammachote
Natini Jinawath
Faculty of Medicine, Ramathibodi Hospital, Mahidol University
Mahidol University
Thammasat University
Keywords: Biochemistry, Genetics and Molecular Biology;Medicine
Issue Date: 1-Jan-2020
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.
ISSN: 15524833
Appears in Collections:Scopus 2020

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