title: Spondyloepiphyseal dysplasia congenita with ventilator dependence: two case reports.
abstract: Home mechanical ventilation has recently become feasible in a number of conditions. Several small series and case reports mention respiratory insufficiency or failure in a subset of patients with spondyloepiphyseal dysplasia congenita. Two cases of successful home mechanical ventilation in children, now 7 years of age, who have spondyloepiphyseal dysplasia congenita and respiratory insufficiency, are reported. Novel rehabilitation planning has facilitated the growth and development of these children.
authors.affiliation: Department of Physical Medicine and Rehabilitation, University of Michigan Medical Center, Ann Arbor 48109, USA.
authors.forename: K B
authors.initials: KB
authors.lastname: Augenstein
authors.forename: M J
authors.initials: MJ
authors.lastname: Ward
authors.forename: V S
authors.initials: VS
authors.lastname: Nelson
mesh_terms: D002648:Child; D002657:Child Development; D005260:Female; D006699:Home Care Services; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications / Q000534:rehabilitation*; D011175:Positive-Pressure Respiration / Q000379:methods*; D012131:Respiratory Insufficiency / Q000209:etiology / Q000628:therapy*