title: Campomelic dysplasia: a rare cause of congenital spinal deformity.
abstract: Campomelic dysplasia is a rare autosomal dominant syndrome that often results in congenital spinal deformity. As a result of improvements in respiratory care, some patients survive into childhood, requiring treatment of their spinal deformities. We present a neonate who was diagnosed with campomelic dysplasia, resulting in severe cervical and thoracic kyphoscoliosis and respiratory compromise. A review of the literature and reported treatment options are discussed. Campomelic dysplasia is a rare cause of congenital spinal deformity; however, intervention may be appropriate in certain patients.
authors.affiliation: Department of Neurosurgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, Iowa 52242, USA. nader-dahdaleh@uiowa.edu <nader-dahdaleh@uiowa.edu>
authors.forename: Nader S
authors.initials: NS
authors.lastname: Dahdaleh
authors.forename: Gregory W
authors.initials: GW
authors.lastname: Albert
authors.forename: David M
authors.initials: DM
authors.lastname: Hasan
mesh_terms: D001915:Braces; D055036:Campomelic Dysplasia / Q000175:diagnosis* / Q000628:therapy*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007738:Kyphosis / Q000151:congenital / Q000628:therapy; D008279:Magnetic Resonance Imaging; D012720:Severity of Illness Index; D016896:Treatment Outcome