Abstract
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.
Keywords:
heart defect; hemivertebra; lung agenesis; preaxial polydactyly; tracheal stenosis.
© 2020 Wiley Periodicals LLC.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / diagnosis*
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Abnormalities, Multiple / diagnostic imaging
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Abnormalities, Multiple / pathology
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Adult
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Aorta, Thoracic / diagnostic imaging
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Aorta, Thoracic / pathology
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Cardiovascular Abnormalities / diagnosis*
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Cardiovascular Abnormalities / diagnostic imaging
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Cardiovascular Abnormalities / pathology
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Female
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Heart Defects, Congenital / diagnosis
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Heart Defects, Congenital / diagnostic imaging
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Heart Defects, Congenital / pathology
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Heart Septal Defects, Ventricular / diagnosis
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Heart Septal Defects, Ventricular / diagnostic imaging
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Heart Septal Defects, Ventricular / pathology
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Humans
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Infant, Newborn
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Lung / abnormalities*
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Lung / diagnostic imaging
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Lung / pathology
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Lung Diseases / diagnosis*
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Lung Diseases / diagnostic imaging
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Lung Diseases / pathology
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Male
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Polydactyly / diagnostic imaging
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Polydactyly / genetics*
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Polydactyly / pathology
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Subclavian Artery / abnormalities*
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Subclavian Artery / diagnostic imaging
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Subclavian Artery / pathology
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Thailand / epidemiology
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Thumb / abnormalities*
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Thumb / diagnostic imaging
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Thumb / pathology
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Tracheal Stenosis / diagnosis*
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Tracheal Stenosis / diagnostic imaging
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Tracheal Stenosis / pathology
Supplementary concepts
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Aberrant subclavian artery
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Lung agenesis
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Polydactyly preaxial type 1