Katz syndrome
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]
| Katz syndrome | |
|---|---|
| Other names | Hyperostosis frontalis interna |
 | |
| Hyperostosis frontalis interna in a 74-year-old woman | |
| Specialty | Medical genetics |
Symptoms and signs
Manifestations include enlarged viscera, hepatomegaly, diabetes, short stature and cranial hyperostosis.
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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