PubMed Central, : RMMJ Rambam Maimonides Medical Journal Rambam Health Care Campus 2012 January; 3(1): e0006. ISSN: 2076-9172Published online 2012 January 31. doi: 10.5041/RMMJ.10073.

Table 1.

Whom to screen?

Possible “Atypical Presentation”

Alopecia

Aphthous stomatitis

Enamel hypoplasia

Infertility

Intractable seizures

Lymphoma

Osteoporosis

Short stature

Unexplained aminotransferase elevation

Unexplained anemia

“At-Risk” Groups (Associated Diseases)

First-degree relatives

Insulin-dependent diabetes mellitus

Autoimmune endocrinopathies

Connective tissue disorders

Non-Hodgkin lymphoma

Adapted from Branski D, Troncone R. J Pediatr¹² Copyright (1998), with permission from Elsevier.

RMMJ Rambam Maimonides Medical Journal Rambam Health Care Campus 2012 January; 3(1): e0006. ISSN: 2076-9172

Published online 2012 January 31. doi: 10.5041/RMMJ.10073.