Axial mesodermal dysplasia spectrum

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Abstract
We report on a 4‐month‐old boy with manifestations of both the oculo‐auriculovertebral spectrum and the caudal regression sequence. He has preauricular appendages, thoracic and lumbar hemivertebrae, anomalies of the ribs, dextrocardia, sacral “dysplasia”, dislocated hips, bilateral talipes equinovarus, imperforate anus, recto‐vesical fistula, malformed scrotum, and undescended testes. As suggested by Russell et al. [1981], who reported a patient with similar anomalies, the spectrum of anomalies probably is due to a generalized alteration in mesodermal cell migration during the primitive streak period. The term “axial mesodermal dysplasia spectrum” best describes the widespread anomalies in the cranial and caudal regions.