J Pediatr Genet 2023; 12(04): 312-317
DOI: 10.1055/s-0041-1729751
Case-Based Review

Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature

Changqing Xia
1   Institute of Medical Genetics and Genomics, Rutgers New Jersey Medical School, Newark, New Jersey, United States
Dibyendu Kumar
1   Institute of Medical Genetics and Genomics, Rutgers New Jersey Medical School, Newark, New Jersey, United States
Bei You
1   Institute of Medical Genetics and Genomics, Rutgers New Jersey Medical School, Newark, New Jersey, United States
Deanna L. Streck
1   Institute of Medical Genetics and Genomics, Rutgers New Jersey Medical School, Newark, New Jersey, United States
Lisa Osborne
1   Institute of Medical Genetics and Genomics, Rutgers New Jersey Medical School, Newark, New Jersey, United States
James Dermody
1   Institute of Medical Genetics and Genomics, Rutgers New Jersey Medical School, Newark, New Jersey, United States
Jie-Gen Jiang
1   Institute of Medical Genetics and Genomics, Rutgers New Jersey Medical School, Newark, New Jersey, United States
Beth A. Pletcher
2   Department of Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, United States
› Author Affiliations
Funding None.


Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion condition. The WHS core phenotype includes developmental delays, intellectual disabilities, seizures, and distinctive facial features. Various other comorbidities have also been reported, such as hearing loss, heart defects, as well as eye problems and kidney problems. In this report, we present a case of WHS accompanied by hyperparathyroidism and hypercalcemia, which has not been previously reported. A girl was born at 37 weeks of gestation by vaginal delivery. She was small for the gestational age (2,045 g) and admitted to neonatal intensive care unit. She had typical WHS facial features and was found to have bilateral small kidneys associated with transient metabolic acidosis and renal insufficiency. She had right-sided sensorineural hearing loss, a small atrial septal defect, and colpocephaly and hypoplasia of corpus callosum. She had a single seizure which was well controlled with an oral antiepileptic medication. Cytogenetic studies demonstrated a large terminal chromosome 4p deletion (21.4 Mb) and 4p duplication (2.1 Mb) adjacent to the deletion. A unique finding in this patient is her consistently elevated levels of parathyroid hormone and serum calcium, suggesting hyperparathyroidism. We present this rare case along with a review of the literature and hope to draw an attention to a potential relationship between WHS and hyperparathyroidism.

Authors' Contributions

C.X. designed the study, collected clinical data, performed literature review, and wrote the manuscript. D.K. performed the data analysis and assisted in figure preparation. B.Y. performed chromosome and CMA data analysis and manuscript editing. D.S. performed CMA data analysis and assisted in CMA figure preparation. J.D. CMA contributed in data analysis. J.G.J. supported in case discussion and manuscript editing. B.A.P. designed the study, collected clinical data, and edited the manuscript.

Publication History

Received: 26 November 2020

Accepted: 24 March 2021

Article published online:
26 June 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

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