Abstract
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.
Highlights
Spondylocostal dysplasia (SCD) is a rare heritable genetic disorder characterised by malformations of the axial skeleton resulting in vertebral and rib abnormalities [1, 2]
We summarized a case of a 7-year-old girl from Sri Lanka who was diagnosed with spondylocostal dysplasia, a rare disease causing short trunk-short stature
Short-trunk skeletal dysplasia comprises a spectrum of diseases that uses various nomenclatures in the literature [1, 2]
Summary
Spondylocostal dysplasia (SCD) is a rare heritable genetic disorder characterised by malformations of the axial skeleton resulting in vertebral and rib abnormalities [1, 2]. Scoliosis, and small thoracic cavity are key clinical features. Affected children might die in early infancy due to thoracic insufficiency syndrome, whilst others could survive well into adulthood [1, 2]. Progressive restrictive lung disease is observed in the survivors due to the inherent features of small thoracic cavity and scoliosis. Little is reported on SCD especially in children beyond infancy and adults, as severe phenotypes die in early infancy, whereas the diagnosis is often overlooked in survivors [2, 3, 5]. We describe a 7-year-old Sri Lankan girl with spondylocostal dysplasia who presented due to short stature and scoliosis and was found to have moderate to severe restrictive lung disease on spirometry
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