Spondylospinal Thoracic Dysostosis

Clinical Features

In 2 sibs, Johnson et al. (1997) described an apparently 'new' syndrome of spondylospinal thoracic dysostosis with a short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, pulmonary hypoplasia, severe arthrogryposis and multiple pterygia, and hypoplastic maxilla and mandible. The disorder was thought to be an autosomal recessive lethal trait. The first sib was born at 32 to 34 weeks' gestation following induced labor and forceps extraction because of intrauterine fetal death presumed to have occurred at approximately 7 months in a pregnancy complicated by weak fetal movements. The second sib was born at term by cesarean section. She was found to have malformations similar to those of her sister; she died soon after birth. The parents were nonconsanguineous. Johnson et al. (1997) concluded that the disorder differed from the Jarcho-Levin syndrome (277300) because in their patients there was clearly a primary bone fusion of the spinus processes of the spinal column with secondary small chest cage; hence, their use of the term spondylospinal thoracic dysostosis.

Nomenclature

The term 'spondylospinal' seems redundant (VAM). Johnson et al. (1997) appeared to be using 'spondylo-' to mean vertebra and 'spinal' to refer specifically to the spinus process of the vertebrae.