Spondylocostal Dysostosis (Jarcho-Levin Syndrome) in an Adult Patient with Consanguineous Parents, in Long-Term Follow-Up

Spondylocostal dysostosis (SCD) type 1 (also known as Jarcho-Levin syndrome) is a rare hereditary skeletal disorder. The mutation of the DLL3 gene leads to the Notch signalling pathway disorder, resulting in somitogenesis errors and numerous deformations within the spine and ribs. This article presents the diagnostic process of a 3-year-old girl suspected of SCD type 1. Performing Sanger method sequencing of the DLL3 gene and computed tomography imaging with 3D reconstruction allowed us to recognize the condition and confirm its molecular basis. We also performed array-based comparative genomic hybridization and detected an incidental finding -a terminal duplication in chromosome X. The whole clinical approach and special investigations may help clinicians recognise the disease and genetic counselling.

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“…The main ailments reported in older patients are back pain and recurrent respiratory infections [14].…”

Section: A B Cmentioning

confidence: 99%

Spondylocostal dysostosis 1 – case report and literature review

Drachal¹,

Zapolnik²,

Dembiński³

et al. 2023

polp

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“…Hemivertebra are rare spinal deformities that can lead to scoliosis during growth. It can be independent vertebral malformations or a part of genetic syndromes, including Jarcho-Levin syndrome, Klippel-Feil syndrome and VACTERL syndrome [ 4 , 6 – 10 ]. Malformation of vertebra is often associated with other skeletal abnormalities, such as ribs and limbs.…”

Section: Introductionmentioning

confidence: 99%

The incidence and interrelationship of hemivertebra and concomitant cardiac abnormalities in congenital scoliosis

Wang,

Zhao,

et al. 2023

BMC Musculoskelet Disord

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Background Congenital scoliosis(CS) is associated with multiple organs defect, and cardiac abnormalities have been reported commonly associated with CS. Hemivertebra is caused by the failure of vertebral formation, which is a major constitute of CS. Till now, few studies focus on the incidence and interrelationship of hemivertebra and concomitant cardiac abnormalities in congenital scoliosis. We aimed to analyze the cardiac defect in CS patients with or without hemivertebra, and further explore the incidence of cardiac defect between different types of hemivertebra. Methods The ultrasonic cardiography (UCG) results of surgically treated congenital scoliosis (CS) patients between 2015 and 2018 were retrospectively analyzed. Patients were divided into hemivertebra group and non-hemivertebra group according to preoperative CT. Patients with hemivertebra was further divided into sub-group by single/multiple or fully/partially/mixed segmented hemivertebra. Demographic information, radiographic data and cardiac abnormalities were statistically compared between groups. Results A total of 329 patients were analyzed, including 216 patients with hemivertebra and 113 patients without hemivertebra. UCG results were abnormal in 89 cases (27.1%), including 41 males(12.5%) and 48 females(14.6%). Hemivertebra group had comparable incidence of cardiac abnormalities with non-hemivertebra group (p = 0.517). No significant difference in the incidence of UCG abnormalities between single and multiple hemivertebra group (P = 0.246). Binary logistic regression analysis showed that female sex with multiple hemivertebra was a risk factor for abnormal UCG (P = 0.009, OR = 3.449). Cardiac abnormalities was comparable among fully, partially and mixed segmented hemivertebra group(P = 0.264). In abnormal UCG, 33 patients with hemivertebra had non-valvular abnormalities, and 48.5% (16/33) were septal defects. 28 patients had valvular abnormalities, most of them were mitral valve abnormalities, especially mitral valve redundancy, prolapse and insufficiency(82.1%, 23/28). No significant difference between the incidence of non-valvular and valvular abnormalities in patients with hemivertebra (P = 0.581). Conclusions The incidence of abnormal UCG results was approximately 28.2% in CS patients with hemivertebra. Female patients with multiple hemivertebra had a higher risk of UCG abnormalities. Mitral valve abnormalities were the most common abnormality of UCG found in CS patients with hemivertebra. Trial registration retrospectively registered.

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“…There has been confusion in the naming and distinction between STD and Jarcho-Levin syndrome, which is known as spondylocostal dysostosis (SCD) 4 5. STD is a separate clinical entity with distinct molecular aetiology, natural history, prognosis and mode of inheritance from SCD.…”

Section: Introductionmentioning

confidence: 99%

“…STD is a separate clinical entity with distinct molecular aetiology, natural history, prognosis and mode of inheritance from SCD. STD involves spine and costal fusion with greater thoracic insufficiency, higher mortality rate and higher rate of neural tube defects than SCD 5…”

Section: Introductionmentioning

confidence: 99%

Anaesthetic management of a parturient with spondylothoracic dysostosis

2020

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Spondylothoracic dysostosis is a rare congenital disorder characterised by multiple vertebral malformations, shortening of the spine and fusion of the ribs at the costovertebral junction. These abnormalities create anaesthetic challenges due to difficult airway, severe restrictive lung disease and spine deformity necessitating a multidisciplinary approach and careful perioperative planning. We present the perianaesthetic management of a parturient with spondylothoracic dysostosis who successfully underwent preterm caesarean delivery under general anaesthesia with awake videolaryngoscopy-assisted tracheal intubation.

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Spondylocostal Dysostosis (Jarcho-Levin Syndrome) in an Adult Patient with Consanguineous Parents, in Long-Term Follow-Up

Cited by 3 publications

References 2 publications

Spondylocostal dysostosis 1 – case report and literature review

Spondylocostal dysostosis 1 – case report and literature review

The incidence and interrelationship of hemivertebra and concomitant cardiac abnormalities in congenital scoliosis

Anaesthetic management of a parturient with spondylothoracic dysostosis

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