Segmental vertebral malformations with rare forms of neural tube defects

Patients with spondylocostal dysostosis, spondylothoracic dysostosis and Jarclio-Lci'in syndrome present with variable associations of dysmorphic faciès, short neck, dwarfism and deformed trunk. We report on seven cases of spondylocostal dysostosis associated with rare forms of neural tube defects: three patients had segmentai spinal dysgenesis, two siblings had caudal regression syndrome, one case had diastematomyelia and one had anterior meningocele. Only fourteen cases of segmental spinal dysgenesis have been previously reported, none with spondylocostal dysgenesis. Our observation of three cases with both unusual entities suggests that the association may occur more often than suspected and may be substantially underdiagnosed. Animal models for costo-vertebral anomalies and for some forms of spina hifida exist and specific mutations have been associated with each. It is possible that genetic studies in humans with these unusual anomalies of ribs and spine could lead to a more precise delineation of the complex clinical entities and explain the timing of the developmental defects.