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Singleton-Merten syndrome

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An extremely rare disorder characterised by calcification of the aortic arch with enlargement of the heart and dental abnormalities.

Description

An extremely rare disorder characterised by calcification of the aortic arch with enlargement of the heart and dental abnormalities. Other features include osteoporosis involving the cranial vault, long and hand bones with widening of the metacarpals, carpals, and phalanges; and hypoplasia of the tooth buds with hypotonia and sometimes failed tooth eruption. Generalised muscle weakness with progressive muscle atrophy, and poor development are usually associated. Occasionally psoriatic skin manifestation. Aetiology unknown. Syndrome appears to occur sporadic, but autosomal dominant inheritance has been suggested.

Bibliography

  • E. B. Singleton, D. F. Marten:
    An unusual syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition.
    Pediatric Radiology, Berlin, 1973, 2: 2-4.

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