Spondylothoracic dysplasia. Clinical and sonographic diagnosis.
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.
Marks
F
F
Department of Obstetrics and Gynecology, New York University Medical Center, New York.
Hernanz-Schulman
M
M
Horii
S
S
Greenland
V C
VC
Lustig
I
I
Snyder
J
J
Young
B K
BK
Greco
M A
MA
Subramanyam
B
B
Genieser
N B
NB
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