Spondylocostal Dysplasia in a 7-Year-Old Sri Lankan Girl Causing Restrictive Lung Disease: A Case Report and Review of the Literature
Spondylocostal dysplasia (SCD) is a rare costovertebral malformation characterised by short-trunk short stature. It is a recessively inherited disorder, and commonly identified disease-causing mutations are in DLL3 gene. The reported prevalence is 1 : 200,000 worldwide, and none was reported from Sr...
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2020/9241207 |
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| author | Phirarthana Kamalanathan Meranthi Fernando Rohan Jayawardena A. Upasena Shaman Rajindrajith Sachith Mettananda |
| author_facet | Phirarthana Kamalanathan Meranthi Fernando Rohan Jayawardena A. Upasena Shaman Rajindrajith Sachith Mettananda |
| author_sort | Phirarthana Kamalanathan |
| collection | DOAJ |
| description | Spondylocostal dysplasia (SCD) is a rare costovertebral malformation characterised by short-trunk short stature. It is a recessively inherited disorder, and commonly identified disease-causing mutations are in DLL3 gene. The reported prevalence is 1 : 200,000 worldwide, and none was reported from Sri Lanka. We report a 7-year-old Sri Lankan girl with spondylocostal dysplasia presenting with short stature and scoliosis. Disproportionate short stature was noted with short upper segment and small thoracic cavity. Skeletal survey revealed fused vertebra involving T5-T6, T9-T10, and L3-L4. Butterfly vertebrae were noted in T2, T4, T6, and T9. Diagnosis of SCD was made based on classic radiological features including vertebral fusion and rib abnormalities. Spirometry was performed due to small thoracic cavity which showed results compatible with moderate to severe restrictive lung disease. The child did not report respiratory difficulties or recurrent chest infections up to the presentation. She was referred to an orthopaedic team which recommended conservative management with close follow-up. In conclusion, spondylocostal dysplasia should be considered in short-trunk short stature with rib abnormalities in the absence of limb shortening. Appropriate treatment and follow-up for restrictive lung disease would determine the long-term outcome. |
| format | Article |
| id | doaj-art-86a2924723af4a588172944025a5f7b3 |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-86a2924723af4a588172944025a5f7b32025-02-03T06:05:39ZengWileyCase Reports in Medicine1687-96271687-96352020-01-01202010.1155/2020/92412079241207Spondylocostal Dysplasia in a 7-Year-Old Sri Lankan Girl Causing Restrictive Lung Disease: A Case Report and Review of the LiteraturePhirarthana Kamalanathan0Meranthi Fernando1Rohan Jayawardena2A. Upasena3Shaman Rajindrajith4Sachith Mettananda5Colombo North Teaching Hospital, Ragama, Sri LankaColombo North Teaching Hospital, Ragama, Sri LankaColombo North Teaching Hospital, Ragama, Sri LankaColombo North Teaching Hospital, Ragama, Sri LankaDepartment of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri LankaColombo North Teaching Hospital, Ragama, Sri LankaSpondylocostal dysplasia (SCD) is a rare costovertebral malformation characterised by short-trunk short stature. It is a recessively inherited disorder, and commonly identified disease-causing mutations are in DLL3 gene. The reported prevalence is 1 : 200,000 worldwide, and none was reported from Sri Lanka. We report a 7-year-old Sri Lankan girl with spondylocostal dysplasia presenting with short stature and scoliosis. Disproportionate short stature was noted with short upper segment and small thoracic cavity. Skeletal survey revealed fused vertebra involving T5-T6, T9-T10, and L3-L4. Butterfly vertebrae were noted in T2, T4, T6, and T9. Diagnosis of SCD was made based on classic radiological features including vertebral fusion and rib abnormalities. Spirometry was performed due to small thoracic cavity which showed results compatible with moderate to severe restrictive lung disease. The child did not report respiratory difficulties or recurrent chest infections up to the presentation. She was referred to an orthopaedic team which recommended conservative management with close follow-up. In conclusion, spondylocostal dysplasia should be considered in short-trunk short stature with rib abnormalities in the absence of limb shortening. Appropriate treatment and follow-up for restrictive lung disease would determine the long-term outcome.http://dx.doi.org/10.1155/2020/9241207 |
| spellingShingle | Phirarthana Kamalanathan Meranthi Fernando Rohan Jayawardena A. Upasena Shaman Rajindrajith Sachith Mettananda Spondylocostal Dysplasia in a 7-Year-Old Sri Lankan Girl Causing Restrictive Lung Disease: A Case Report and Review of the Literature Case Reports in Medicine |
| title | Spondylocostal Dysplasia in a 7-Year-Old Sri Lankan Girl Causing Restrictive Lung Disease: A Case Report and Review of the Literature |
| title_full | Spondylocostal Dysplasia in a 7-Year-Old Sri Lankan Girl Causing Restrictive Lung Disease: A Case Report and Review of the Literature |
| title_fullStr | Spondylocostal Dysplasia in a 7-Year-Old Sri Lankan Girl Causing Restrictive Lung Disease: A Case Report and Review of the Literature |
| title_full_unstemmed | Spondylocostal Dysplasia in a 7-Year-Old Sri Lankan Girl Causing Restrictive Lung Disease: A Case Report and Review of the Literature |
| title_short | Spondylocostal Dysplasia in a 7-Year-Old Sri Lankan Girl Causing Restrictive Lung Disease: A Case Report and Review of the Literature |
| title_sort | spondylocostal dysplasia in a 7 year old sri lankan girl causing restrictive lung disease a case report and review of the literature |
| url | http://dx.doi.org/10.1155/2020/9241207 |
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