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

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

Syunsuke Nagara  1   2 , Satoko Fukaya  1 , Yukako Muramatsu  3 , Tadashi Kaname  4 , Taihei Tanaka  1
Affiliations
Case Reports

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

Syunsuke Nagara et al. Pediatr Int. 2020 Aug.
No abstract available

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

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References

    1. Richards S, Aziz N, Bale S et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 2015; 17: 405-24.
    1. Frints SGM, Hennig F, Colombo R et al. Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Hum. Mutat. 2019; 40: 2270-85.
    1. Orphanet. [Cited 23 April 2019] Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454
    1. Imamoğlu M, Cay A, Koşucu P et al. Congenital paraesophageal hiatal hernia: pitfalls in the diagnosis and treatment. J. Pediatr. Surg. 2005; 40: 1128-33.
    1. Sinopidis X, Panagidis A, Alexopoulos V et al. Congenital Spigelian Hernia combined with bilateral inguinal Hernias. Balkan Med. J. 2018; 35: 402-3.

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