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Rupps, R. et al.

Skeletal and cardiac malformations with thrombocytopenia: a new syndrome?

We describe a female patient with multiple anomalies suggestive of a new syndrome. Manifestations include: VSD and ASD, mild developmental delay, conductive hearing loss, minor facial anomalies, thrombocytopenia, and radiological findings (including carpal fusion). Some of these manifestations may be present in the Keutel syndrome, IVIC syndrome, and the 10qter deletion syndrome. However, none of these syndromes can explain the spectrum of anomalies seen in our patient.[1]

References

Skeletal and cardiac malformations with thrombocytopenia: a new syndrome? Rupps, R., Elliott, A.M., Azouz, E.M., Bernstein, M.L., Kaplan, P., Eydoux, P., Der Kaloustian, V.M. Am. J. Med. Genet. (1996) [Pubmed]

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