OBJECTIVE: To highlight the relationship between neural tube defects and spondylocostal dysostosis (SCD) through the description of three patients. CASES DESCRIPTION: Patient 1: white girl, 22 months old, born with a lumbar meningomyelocele. At evaluation, she presented hypotonia, short stature, dolichocephaly, upslanting palpebral fissures, bilateral epicanthal folds, and short trunk with an asymmetric thorax. Radiographic examination showed multiple hemivertebrae, butterfly vertebrae, fusion and absence of some ribs. Patient 2: white girl, 22 months old, with moderate neuropsychomotor delay, short stature, deep set eyes, bilateral epicanthal folds, short neck and trunk with an asymmetric thorax, protruding abdomen, hemangioma at the level of lumbosacral transition and deep sacral dimple. The radiographic evaluation showed hemivertebrae, incomplete fusion of vertebrae and butterfly vertebrae, costal malformations and spina bifida occulta in L5/S1. Patient 3: white girl, nine days old, with upslanting palpebral fissures, broad nasal bridge, anteverted nostrils, low-set and posteriorly rotated ears, short trunk with asymmetric thorax, and thoracolombar meningocele. Radiographic evaluation showed several hemivertebrae, malformation, absence of some ribs, and diaphragmatic agenesia at left. Brain tomography showed an aqueductal stenosis. COMMENTS: Several neural tube defects, from spina bifida occulta to large meningomyelocele, are observed in patients with SCD. Thus, these patients should be carefully evaluated regarding the possible presence of such defects.
spinal diseases; ribs; neural tube defects; meningocele; meningomyelocele; spina bifida occulta
