Case Report
JBCGenetics. 2020; 3(2): 100-103

Opsismodysplasia and Dilated Cardiomyopathy: a case report

Authors: Muneer Almutairi, Mohammed Almannai.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1595951481

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.


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Opsismodysplasia and Dilated Cardiomyopathy: a case report


Authors
Muneer Almutairi
Pediatric Neurology Department, National Neurosciences Institute, King Fahad Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Mohammed Almannai
Section of Medical Genetics, Childrens Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
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Correspondence to:
. Muneer Almutairi, Pediatric Neurology Department, National Neurosciences Institute, King Fahad Medical City, Riyadh, Saudi Arabia.; Muneer_almutairi@hotmail.com

Publication history
Received 29 Jul 2020
Revised 23 Aug 2020
Accepted 10 Sep 2020
Published in print 30 Sep 2020

How to cite this article

Pubmed Style

Almutairi M, Almannai M. Opsismodysplasia and Dilated Cardiomyopathy: a case report. JBCGenetics. 2020; 3(2): 100-103. doi:10.24911/JBCGenetics/183-1595951481


Web Style

Almutairi M, Almannai M. Opsismodysplasia and Dilated Cardiomyopathy: a case report. https://www.jbcgenetics.com//?mno=114413 [Access: January 19, 2021]. doi:10.24911/JBCGenetics/183-1595951481


AMA (American Medical Association) Style

Almutairi M, Almannai M. Opsismodysplasia and Dilated Cardiomyopathy: a case report. JBCGenetics. 2020; 3(2): 100-103. doi:10.24911/JBCGenetics/183-1595951481


Vancouver/ICMJE Style

Almutairi M, Almannai M. Opsismodysplasia and Dilated Cardiomyopathy: a case report. JBCGenetics. (2020), [cited January 19, 2021]; 3(2): 100-103. doi:10.24911/JBCGenetics/183-1595951481


Harvard Style

Almutairi, M. & Almannai, . M. (2020) Opsismodysplasia and Dilated Cardiomyopathy: a case report. JBCGenetics, 3 (2), 100-103. doi:10.24911/JBCGenetics/183-1595951481


Turabian Style

Almutairi, Muneer, and Mohammed Almannai. 2020. Opsismodysplasia and Dilated Cardiomyopathy: a case report. Journal of Biochemical and Clinical Genetics, 3 (2), 100-103. doi:10.24911/JBCGenetics/183-1595951481


Chicago Style

Almutairi, Muneer, and Mohammed Almannai. "Opsismodysplasia and Dilated Cardiomyopathy: a case report." Journal of Biochemical and Clinical Genetics 3 (2020), 100-103. doi:10.24911/JBCGenetics/183-1595951481


MLA (The Modern Language Association) Style

Almutairi, Muneer, and Mohammed Almannai. "Opsismodysplasia and Dilated Cardiomyopathy: a case report." Journal of Biochemical and Clinical Genetics 3.2 (2020), 100-103. Print. doi:10.24911/JBCGenetics/183-1595951481


APA (American Psychological Association) Style

Almutairi, M. & Almannai, . M. (2020) Opsismodysplasia and Dilated Cardiomyopathy: a case report. Journal of Biochemical and Clinical Genetics, 3 (2), 100-103. doi:10.24911/JBCGenetics/183-1595951481


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