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LACHT syndrome ( Mardini–Nyhan association) with tracheal stenosis in a Thai newborn
Author(s) -
Rojnueangnit Kitiwan,
Kositamongkol Sudatip,
Paoin Wanida,
Satdhabudha Araya,
Pharadornuwat Onsuthi,
Wongwandee Ratthapon,
Thammachote Weerin,
Jinawath Natini
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61746
Subject(s) - medicine , tracheal stenosis , cardiology , stenosis , polydactyly , aortic arch , agenesis , surgery , anatomy , aorta
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.