Case Report

Volume: 3 | Issue: 2 | Published: Nov 25, 2020 | Pages: 100 - 103 | DOI: 10.24911/JBCGenetics/183-1595951481

Opsismodysplasia and Dilated Cardiomyopathy: a case report

Authors: Muneer Almutairi , Mohammed Almannai

Article Info

Authors

Muneer Almutairi

Pediatric Neurology Department, National Neurosciences Institute, King Fahad Medical City, Riyadh, Saudi Arabia

Mohammed Almannai

Section of Medical Genetics, Children’s Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia

Publication History

Received: July 29, 2020

Accepted: September 10, 2020

Published: November 25, 2020

Abstract

Background: Opsismodysplasia (OPSMD) is an extremely rare and severe autosomal recessive skeletal dysplasia that is under the category of severe spondylodysplastic dysplasia. It is characterized by delayed bone maturation, and affected patients are identified by a peculiar craniofacioskeletal dysmorphism in the form of wide anterior fontanelle, depressed nasal bridge, anteverted nares, and short limbs and feet. Radiologically, they are characterized by severe platyspondyly, squared metacarpals, delayed skeletal ossification, and metaphyseal cupping. Case Presentation: We present the clinical and radiological features of a 14-month-old boy with a homozygous, likely pathogenic variant in INPPL1 gene c.2627dup (p.Pro977Thrfs*7) consistent with the diagnosis of OPSMD. He also has dilated cardiomyopathy. Conclusion: OPSMD is an uncommon form of skeletal dysplasia that should be suspected in the context of short stature with characteristic radiological features. Up to now, no definitive therapeutic measures are available, and hence preventive measures are essential in the management of families with affected members.

Keywords: Opsismodysplasia, hypophosphatemic chondrodysplasia, osteodystrophy, cardiomyopathy, case report

Open access Creative Commons License

Pubmed Style

Muneer Almutairi, Mohammed Almannai. Opsismodysplasia and Dilated Cardiomyopathy: a case report. JBC Genetics. 2020; 25 (November 2020): 100-103. doi:10.24911/JBCGenetics/183-1595951481

Web Style

Muneer Almutairi, Mohammed Almannai. Opsismodysplasia and Dilated Cardiomyopathy: a case report. https://jbcgenetics.com/articles/2160 [Access: June 02, 2025]. doi:10.24911/JBCGenetics/183-1595951481

AMA (American Medical Association) Style

Muneer Almutairi, Mohammed Almannai. Opsismodysplasia and Dilated Cardiomyopathy: a case report. JBC Genetics. 2020; 25 (November 2020): 100-103. doi:10.24911/JBCGenetics/183-1595951481

Vancouver/ICMJE Style

Muneer Almutairi, Mohammed Almannai. Opsismodysplasia and Dilated Cardiomyopathy: a case report. JBC Genetics. (2020), [cited June 02, 2025]; 25 (November 2020): 100-103. doi:10.24911/JBCGenetics/183-1595951481

Harvard Style

Muneer Almutairi, Mohammed Almannai (2020) Opsismodysplasia and Dilated Cardiomyopathy: a case report. JBC Genetics, 25 (November 2020): 100-103. doi:10.24911/JBCGenetics/183-1595951481

Chicago Style

Muneer Almutairi, Mohammed Almannai. "Opsismodysplasia and Dilated Cardiomyopathy: a case report." 25 (2020), 100-103. doi:10.24911/JBCGenetics/183-1595951481

MLA (The Modern Language Association) Style

Muneer Almutairi, Mohammed Almannai. "Opsismodysplasia and Dilated Cardiomyopathy: a case report." 25.November 2020 (2020), 100-103. Print. doi:10.24911/JBCGenetics/183-1595951481

APA (American Psychological Association) Style

Muneer Almutairi, Mohammed Almannai (2020) Opsismodysplasia and Dilated Cardiomyopathy: a case report. , 25 (November 2020), 100-103. doi:10.24911/JBCGenetics/183-1595951481