Spondyloepiphyseal Dysplasia Congenita: A Rare Cause of Respiratory Distress

Abstract

Spondyloepiphysal dysplasia (SED) is an inheritable dysplasia of the bone due to a defect in collagen. It has a prevalence of 3.4 per million. It has two important types, congenita and tarda, which are differentiated by the age presentation and heritage mode. SED congenita can present a significant reduction in the upper segment to a lower segment ratio. Collagen mutation results in abnormal growth and development of spine and limb bones. The complex pattern of craniofacial anomalies is due to defective ossification and connective tissue problem. We here present the case of a three-hour-old girl with a short trunk and craniofacial anomalies that brought in respiratory distress to the neonatal intensive care unit. This condition is rare and thus poses a major diagnostic challenge at an early stage.

Management of Craniocervical Instability in Spondyloepiphyseal Dysplasia Congenita: Assessment of Literature and Presentation of Two Cases

“…The name SEDC was appropriately chosen as the most substantial abnormalities were of the spine and proximal epiphyses with these abnormalities present at birth. The disorder is quite rare with an incidence of 1:100,000 per year [7].…”

Molecular Diagnosis and Prenatal Counseling of a Chinese Family with Spondyloepiphyseal Dysplasia congenital

“…Patients affected with SEDC may show skeletal manifestations such as short stature, abnormal epiphyses, and flattened vertebral bodies (Dikaiakou et al, 2019;Zheng et al, 2020), as well as extraskeletal manifestations such as cleft palate, retinal detachment, myopia and hearing loss (Saleem et al, 2019).…”