Opsismodysplasia and Dilated Cardiomyopathy: a case report
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 dysmor...
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| Format: | Article |
| Language: | English |
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Discover STM Publishing Ltd
2020-12-01
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| Series: | Journal of Biochemical and Clinical Genetics |
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| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=114413 |
| _version_ | 1797816693960998912 |
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| author | Muneer Almutairi Mohammed Almannai |
| author_facet | Muneer Almutairi Mohammed Almannai |
| author_sort | Muneer Almutairi |
| collection | DOAJ |
| description | 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. [JBCGenetics 2020; 3(2.000): 100-103] |
| first_indexed | 2024-03-13T08:41:29Z |
| format | Article |
| id | doaj.art-d2ff31207ba845dc80def8770618174e |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:41:29Z |
| publishDate | 2020-12-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-d2ff31207ba845dc80def8770618174e2023-05-30T11:47:11ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2020-12-013210010310.24911/JBCGenetics/183-1595951481114413Opsismodysplasia and Dilated Cardiomyopathy: a case reportMuneer Almutairi0Mohammed Almannai1Pediatric Neurology Department, National Neurosciences Institute, King Fahad Medical City, Riyadh, Saudi Arabia Section of Medical Genetics, Childrens Specialized Hospital, King Fahad Medical City, Riyadh, Saudi ArabiaBackground: 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. [JBCGenetics 2020; 3(2.000): 100-103]http://www.ejmanager.com/fulltextpdf.php?mno=114413opsismodysplasiahypophosphatemic chondrodysplasiaosteodystrophycardiomyopathycase report |
| spellingShingle | Muneer Almutairi Mohammed Almannai Opsismodysplasia and Dilated Cardiomyopathy: a case report Journal of Biochemical and Clinical Genetics opsismodysplasia hypophosphatemic chondrodysplasia osteodystrophy cardiomyopathy case report |
| title | Opsismodysplasia and Dilated Cardiomyopathy: a case report |
| title_full | Opsismodysplasia and Dilated Cardiomyopathy: a case report |
| title_fullStr | Opsismodysplasia and Dilated Cardiomyopathy: a case report |
| title_full_unstemmed | Opsismodysplasia and Dilated Cardiomyopathy: a case report |
| title_short | Opsismodysplasia and Dilated Cardiomyopathy: a case report |
| title_sort | opsismodysplasia and dilated cardiomyopathy a case report |
| topic | opsismodysplasia hypophosphatemic chondrodysplasia osteodystrophy cardiomyopathy case report |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=114413 |
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