Abstract
Introduction
An X-linked ZC4H2 variant is associated with a variety of phenotypes that have abnormalities related
to external malformation and neurodevelopment. There have been no reports on severe
respiratory dysfunction resulting in surgical treatments not being possible due to
the deformity resulting from in this disease. Here we report a female with arthrogryposis
multiplex congenita with a severe respiratory complication.
Case
A two-year-old girl had arthrogryposis multiplex congenita at delivery and subsequently
had hypotonia and feeding difficulty. A novel ZC4H2 frameshift variant was identified by whole-exome sequencing in her genome. At eight
months, she had recurrent aspiration pneumonia. A tracheostomy and gastrostomy were
required; however, surgical intervention was not possible because of her short neck
and complicated airway.
Conclusion
We compared this case with previous reports. The truncation group had more described
phenotypes than the non-truncation group. The patient had the most severe respiratory
dysfunction in truncating variant.
Keywords
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Article Info
Publication History
Published online: April 30, 2022
Accepted:
April 17,
2022
Received in revised form:
April 15,
2022
Received:
December 3,
2021
Identification
Copyright
© 2022 The Japanese Society of Child Neurology Published by Elsevier B.V. All rights reserved.
