This Article  • References  • Full text PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

STEPHEN K. JONES, MD; SANDRA K. SURBRUGG, MD; WILLIAM L. WESTON, MD
Department of Dermatology

EVA SUJANSKY, MD
Department of Pediatrics University of Colorado School of Medicine 4200 E Ninth Ave Denver, CO 80262

Am J Dis Child. 1985;139(12):1180.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

Sir.—We read with interest the article by Vanderschueren-Lodeweyckx et al¹ on the pitfalls in the diagnosis of Bloom's syndrome. We have also seen a child whose condition was initially diagnosed as Russell-Silver dwarfism; this child's condition later turned out to be Bloom's syndrome.

Patient Report.—An 18-month-old female infant was born at term, was 37.5 cm (15 in) in length, and weighed 1,346 g, despite an uneventful pregnancy. For the first four months of life, she suffered from persistent candidiasis, eventually responding to oral antifungal agents. She then developed severe pneumonia that lasted for almost three months, requiring hospitalization for six weeks. During this admission, she had low immunoglobulin levels, with an IgG level of 194 mg/dL (normal range, 639 to 1,349 mg/dL), an IgA level of 16 mg/dL (normal range, 70 to 312 mg/dL), and an IgM level of 56 mg/dL (normal range, 56 to 352 mg/dL). . . . [Full Text PDF of this Article]

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?