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Skeletal and cardiac malformations with thrombocytopenia: A new syndrome?

✍ Scribed by Rupps, Rosemarie; Elliott, Alison M.; Azouz, E. Michel; Bernstein, Mark L.; Kaplan, Paige; Eydoux, Patrice; Der Kaloustian, Vazken M.

Book ID: 101214263
Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 401 KB
Volume: 64
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960823)64:3<497::aid-ajmg10>3.0.co;2-g

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✦ Synopsis

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 lOqter deletion syndrome. However, none of these syndromes can explain the spectrum of anomalies seen in our patient.

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