SPONDYLOCOSTAL DYSOSTOSIS WITH PERINATAL DEATH AND MENINGOMYELOCELE

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.