title: Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel-Chen-Johnson syndrome).
abstract: Spondylospinal thoracic dysostosis can be considered a type of spondylocostal dysostosis because of the occurrence of vertebral defects (hemivertebrae and vertebral body fusion) and thoracic anomalies (short thorax and pulmonary hypoplasia). This syndrome was described by Johnson et al. (1997) in two siblings with dwarfism, short thorax, curved spine, fusion of the vertebrae and spinal process, multiple pterygium, and arthrogryposis. We describe the case of a 16-year-old Mexican girl with the longest survival recorded (the previous oldest patient was 7 years old) and analyze the natural history and describe some new features of this rare entity.
authors.affiliation: aChildren's Rehabilitation Center Teleton, Chihuahua City, Chihuahua bDivision of Genetics, Western Biomedical Research Center, IMSS, Guadalajara, Jalisco, Mexico.
authors.forename: Luis E
authors.initials: LE
authors.lastname: Becerra-Solano
authors.forename: Liliana
authors.initials: L
authors.lastname: Chacon
authors.forename: Dinorah
authors.initials: D
authors.lastname: Morales-Mata
authors.forename: Maria de Lourdes
authors.initials: Mde L
authors.lastname: Ramírez-Dueñas
authors.forename: José E
authors.initials: JE
authors.lastname: García-Ortiz
mesh_terms: D000293:Adolescent; D003286:Contracture / Q000000981:diagnostic imaging / Q000473:pathology*; D004413:Dysostoses / Q000000981:diagnostic imaging / Q000473:pathology*; D005190:Family; D005260:Female; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000473:pathology*; D010641:Phenotype; D011859:Radiography; D012272:Ribs / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology