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Katz syndrome
| Field | Value |
|---|---|
| synonyms | Hyperostosis frontalis interna |
| image | Hyperostosis frontalis interna - Roe seitlich.jpg |
| caption | Hyperostosis frontalis interna in a 74-year-old woman |
| field | Medical genetics |
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.
Symptoms and signs
Manifestations include enlarged viscera, hepatomegaly, diabetes, short stature and cranial hyperostosis.
References
References
- 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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