title: Spondylothoracic dysplasia. Clinical and sonographic diagnosis.
abstract: Spondylothoracic dysplasia, also known as short-trunk dwarfism or Jarcho-Levin syndrome, is a fatal autosomal recessive disorder characterized by vertebral and spinal defects with a short thorax. Until recently, in utero diagnosis could only be made radiographically. Sonographic criteria for antenatal diagnosis are discussed in conjunction with a review of the literature.
authors.affiliation: Department of Obstetrics and Gynecology, New York University Medical Center, New York.
authors.forename: F
authors.initials: F
authors.lastname: Marks
authors.forename: M
authors.initials: M
authors.lastname: Hernanz-Schulman
authors.forename: S
authors.initials: S
authors.lastname: Horii
authors.forename: V C
authors.initials: VC
authors.lastname: Greenland
authors.forename: I
authors.initials: I
authors.lastname: Lustig
authors.forename: J
authors.initials: J
authors.lastname: Snyder
authors.forename: B K
authors.initials: BK
authors.lastname: Young
authors.forename: M A
authors.initials: MA
authors.lastname: Greco
authors.forename: B
authors.initials: B
authors.lastname: Subramanyam
authors.forename: N B
authors.initials: NB
authors.lastname: Genieser
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013131:Spine / Q000002:abnormalities*; D013909:Thorax / Q000002:abnormalities*; D014463:Ultrasonography