Premium
Spondylothoracic dysplasia. Clinical and sonographic diagnosis.
Author(s) -
Marks F,
Hernanz-Schulman M,
Horii S,
Greenland V C,
Lustig I,
Snyder J,
Young B K,
Greco M A,
Subramanyam B,
Genieser N B
Publication year - 1989
Publication title -
journal of ultrasound in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.574
H-Index - 91
eISSN - 1550-9613
pISSN - 0278-4297
DOI - 10.7863/jum.1989.8.1.1
Subject(s) - medicine , dysplasia , in utero , dwarfism , thorax (insect anatomy) , trunk , prenatal diagnosis , achondroplasia , radiology , pediatrics , anatomy , pathology , pregnancy , fetus , ecology , biochemistry , chemistry , biology , gene , genetics
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.