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Axial mesodermal dysplasia spectrum.

F J Stewart·N C Nevin·S Brown
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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.

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Abnormalities, MultipleAdultAnus, ImperforateFemaleHip Dislocation, CongenitalHumansInfant, NewbornKidneyMaleMesodermRadiography, ThoracicRibsCase ReportsJournal ArticleReview

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F J Stewart, N C Nevin, S Brown. 1993-02-15. Axial mesodermal dysplasia spectrum.. https://doi.org/10.1002/ajmg.1320450405

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