Thoracic dysplasia in spondyloepiphyseal dysplasia congenita.
Spondyloepiphyseal dysplasia congenita (SED congenita) can involve the ribs. The result is rib shortening, a dysplastic thorax that is not only short but also narrowed, and respiratory failure. This case involves an infant who died of respiratory failure 36 hours after birth. A dysplastic small volume thorax in infancy, leading to serious respiratory embarrassment, must be included into the clinical and radiological pictures of SED congenita. To my knowledge, rib shortening and thoracic dysplasia in SED congenita have not been previously described.
D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000150:complications*; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology; D012272:Ribs; D013896:Thoracic Diseases / Q000209:etiology*