Katz syndrome

Hyperostosis frontalis interna
Hyperostosis frontalis interna in a 74-year-old woman
Classification and external resources

Katz Syndrome is a rare congenital disorder, presenting as a polymalformative syndrome characterized by enlarged viscera, hepatomegaly, diabetes, and skeletal anomalies that result in a short stature, cranial hyperostosis, and typical facial features. It is probably a variant of the autosomal recessive type of Craniometaphyseal Dysplasia.[1]

Symptoms

Manifestations include enlarged viscera, hepatomegaly, diabetes, short stature and cranial hyperostosis.

References

  1. ↑ Bruno Bissonnette, Igor Luginbuehl, Bruno Marciniak, Bernard J. Dalens (eds.): Syndromes: Rapid Recognition and Perioperative Implications (McGraw-Hill Companies, 2006) ISBN 0-07-135455-7


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