A preterm black girl was born at 35 weeks of gestation to a healthy no
nconsanguineous couple. She had a very short trunk with disproportiona
tely long extremities, mild prognathism, low-set ears, thoracolumbar m
eningomyelocele, and imperforate anus. She died 45 min after birth. Ro
entgenograms revealed hemivertebrae, block vertebrae, severe thoracic
lordosis, absent sacrum, posterior fusion of some ribs with greater di
stance among them in the anterior thorax, and relatively tong extremit
ies. Internal examination showed an intact meningomyelocele extending
from the first thoracic vertebra to the lumbosacral region, containing
150 mL of clear fluid. The lungs were severely hypoplastic. Spondyloc
ostal dysostosis encompasses a spectrum of vertebral abnormalities ran
ging from spina bifida occulta to large meningomyelocele and from mild
to severe thoracic deformities that produce pulmonary hypoplasia and
respiratory insufficiency. Our case is one of the most severe ever des
cribed.