LACHT syndrome (Mardini–Nyhan association) with tracheal stenosis in a Thai newborn

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...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2020-09, Vol.182 (9), p.2175-2180
Main Authors: Rojnueangnit, Kitiwan, Kositamongkol, Sudatip, Paoin, Wanida, Satdhabudha, Araya, Pharadornuwat, Onsuthi, Wongwandee, Ratthapon, Thammachote, Weerin, Jinawath, Natini
Format: Article
Language:English
Subjects:
Aortic arch
Heart
heart defect
hemivertebra
lung agenesis
Phenotypes
Polydactyly
preaxial polydactyly
Stenosis
tracheal stenosis
Ventricle
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Summary: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:1552-4825
1552-4833
DOI:10.1002/ajmg.a.61746