Cervical spine stenosis in chondrodysplasia punctata

Abstract

Chondrodysplasia punctata (CDP) is a rare skeletal dysplasia characterized by stippled epiphyses during infancy. The frequency is probably underdiagnosed because of the large heterogeneity in this group. Many genotypic variations exist. Although cervical instability is commonly seen in many skeletal dysplasias, cervical spine stenosis associated with CDP is very rare. We report a boy with phenotypic features of brachytelephalangic chondrodysplasia punctata (BCDP) who had severe cervical spine stenosis successfully corrected by vertebrectomies of C6 and C7 with a fibular strut graft. We discuss the significance of this association.

1030 A Case of Rhizomelic Chondrodysplasia Punctata in Newborn

“…Spasticity, psychomotor retardation, growth retardation, seizures, thermoregulatory instability, feeding difficulty, recurrent otitis media, and pneumonia have been reported in CDP cases [11]. Our case was still fed orally in spite of the feeding difficulty, and her weight was 4800 gm (50-75 p) at two months.…”

“…Spinal stenosis is a frequent sign of bone dysplasia, while it is rarely reported in rhizomelic CDP cases [11][12][13]. Cervical spinal stenosis, which in some cases leads to cord compression and myelopathy, has been described in chondrodysplasia punctate of rhizomelic, brachytelephalangic, and ConradiHunermann types [13].…”

Radiological picture of premature baby with manifestation of brachytelephalangic type chondrodysplasia punctata, myelomalacia

“…15 In surgical management, decompressive laminectomy and vertebrectomy can be performed depending on the severity of stenosis and presence of complications. 1 Cervical spine stability is usually attempted with bone grafts or surgical fixation hardware. 1 Sequential imaging provides important information in terms of preoperative state and postoperative follow-up.…”

“…1 It manifests with punctate calcifications in the non-ossified epiphyseal cartilage. CDP is a heterogeneous group of disorders with genetic variation, and the diagnosis is often missed due to low prevalence rate.…”

“…CDP is a heterogeneous group of disorders with genetic variation, and the diagnosis is often missed due to low prevalence rate. 1 According to Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision, chondrodyplasia punctata (CDP) group is classified under the Group 21-CDP group. 2 This group includes CDP X-linked dominant Conradi-Hunermann type, CDP X-linked recessive brachytelephalangic type, CHILD, Keutel syndrome, Greenberg dysplasia, Rhizomelic CDP type1, Rhizomelic CDP type 2, Rhizomelic CDP type 3, CDP tibial-metacarpal type and Astley-Kendall dysplasia.…”