title: [Asphyxiating thoracic dystrophy (author's transl)].
abstract: Report on a 17 months old boy with the minor form of asphyxiating thoracic dystrophy. The clinical picture is characterized by a rigid, narrow, and extended thorax and by dyspnea and tendency to develop pneumonitis during early infancy. Later on there is gradual improvement by increase of the thoracic volume. At the age of 17 months there are no more radiographic pelvic deformities which the infant had initially. Up to now the boy shows no skeletal changes of the hands, and no symptoms of renal involvement frequently developing in this disease. Since the a. th. d. is inherited by an autosoma recessive gene, the recognition also of the minor forme is important for genetic counseling. The differentiation between the a. th. d. and the chondroektodermal dysplasia Ellis-van Crefeld is discussed.
mesh_terms: D001237:Asphyxia / Q000000981:diagnostic imaging / Q000209:etiology*; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000175:diagnosis; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D010388:Pelvis / Q000000981:diagnostic imaging; D013902:Radiography, Thoracic; D013909:Thorax / Q000002:abnormalities*; D014567:Urography
vernacular_title: Die asphyxierende Thoraxdystrophie