Katz syndrome

Katz syndrome
Other names	Hyperostosis frontalis interna
Hyperostosis frontalis interna in a 74-year-old woman
Specialty	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. ^[1]

Symptoms and signs

Manifestations include enlarged viscera, hepatomegaly, diabetes, short stature and cranial hyperostosis.^{[ citation needed ]}

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