Katz syndrome | |
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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.
Diagnosis
Treatment
References
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