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Juberg-Marsidi syndrome: report of an additional case

Juberg-Marsidi syndrome: report of an additional case

American Journal of Medical Genetics 58(4): 353-355

ISSN/ISBN: 0148-7299

PMID: 8533845

DOI: 10.1002/ajmg.1320580410

We report on a 2-year-old boy with Juberg-Marsidi syndrome. He has mental retardation, short stature, micropenis, cryptorchidism, and minor facial abnormalities. His Leydig cells responded to the administration of human chorionic gonadotropin and there were positive responses of LH and FSH to the administration of LH-RH. He showed normal weight gain and head circumference which have not been described previously. The association of Juberg-Marsidi syndrome with HbH disease was ruled out in the propositus.

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Accession: 032078946

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