Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 176, Issue 11, Pages 2331-2341Publisher
WILEY
DOI: 10.1002/ajmg.a.40507
Keywords
musculocontractural Ehlers-Danlos syndrome (mcEDS-CHST14); scoliosis; thoracolumbar kyphosis; cervical kyphosis; vertebral malformations
Categories
Funding
- Japan Society for the Promotion of Science, Japan
- Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development [17ek0109105h0003]
Ask authors/readers for more resources
Musculocontractural Ehlers-Danlos syndrome caused by mutations in CHST14 (mcEDS-CHST14) is a recently delineated disorder, characterized by craniofacial, skeletal, visceral, and ocular malformations; and progressive cutaneous, skeletal, vascular, and visceral fragility-related manifestations. Spinal lesions, though one of the most serious complications, have not been investigated systematically. In this study, we report detailed and comprehensive information about spinal lesions of 12 patients with a mean age at the first visit of 13.4 years. Eight patients (66.7%) had scoliosis with a Cobb angle >= 10 degrees, including one with severe scoliosis with a Cobb angle >= 45 degrees. Five patients (41.7%) had kyphosis at the thoracolumbar junction with a kyphotic angle >= 20 degrees. Three patients (25%) developed severe thoracolumbar kyphosis with a kyphotic angle >= 50 degrees accompanied by thoracic lordosis with a wedge-like vertebral deformity and anterior vertebral osteophyte at the thoracolumbar junction, and two of them underwent surgical correction: complicated by fistula formation in one and performed safely and effectively through two-staged operation in the other. Six patients (50.0%) had cervical kyphosis, all of whom except one had kyphosis >= 20 degrees at the thoracolumbar level. Two patients (16.7%) had atlantoaxial subluxation, and 10 patients (83.3%) had cervical vertebral malformations. Patients with mcEDS-CHST14 are susceptible to develop scoliosis, thoracolumbar kyphosis, and cervical kyphosis; and are recommended to have regular surveillance including total spine radiology. The present findings also suggest the critical role of dermatan sulfate in the development and maintenance of the spine.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available