A case report of rare ZC4H2-associated disorders associated with three large hernias

Pediatr Int. 2020 Aug;62(8):985-986. doi: 10.1111/ped.14211. Epub 2020 Jul 20.

Authors

Syunsuke Nagara^{1

2}, Satoko Fukaya¹, Yukako Muramatsu³, Tadashi Kaname⁴, Taihei Tanaka¹

Affiliations

¹ Department of Pediatrics, Japanese Red Cross Nagoya Daini Hospital, Nagoya, Aichi, Japan.
² Department of Pediatrics, Japanese Red Cross Takayama Hospital, Takayama, Gifu, Japan.
³ Department of Pediatrics, Nagoya University Hospital, Nagoya, Aichi, Japan.
⁴ Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.

PMID: 32686882
DOI: 10.1111/ped.14211

No abstract available

Keywords: Spigelian hernia; ZC4H2 gene; inguinal hernia; paraesophageal hiatal hernia; rare ZC4H2-associated disorder.

Publication types

Case Reports

MeSH terms

Apraxias / complications*
Apraxias / genetics
Contracture / complications*
Contracture / genetics
Exome Sequencing
Fatal Outcome
Genetic Diseases, X-Linked / complications*
Genetic Diseases, X-Linked / genetics
Hernia / complications*
Hernia, Hiatal / complications
Hernia, Inguinal / complications
Hernia, Ventral / complications
Humans
Infant
Intestinal Pseudo-Obstruction / complications
Intracellular Signaling Peptides and Proteins / genetics*
Male
Muscular Atrophy / complications*
Muscular Atrophy / genetics
Mutation
Nuclear Proteins / genetics*
Ophthalmoplegia / complications*
Ophthalmoplegia / genetics
Pneumonia, Aspiration / complications

Substances

Intracellular Signaling Peptides and Proteins
Nuclear Proteins
ZC4H2 protein, human

Supplementary concepts

Wieacker syndrome