Gorlin-Goltz syndrome

Priya Shirish Joshi, Vijay Deshmukh, Someshwar Golgire


Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is
characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental,
ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri,
and facial dysmorphism. Pathogenesis of the syndrome is attributed to abnormalities in the long
arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene).
Diagnosis is based upon established major and minor clinical and radiological criteria and ideally
confirmed by deoxyribo nucleic acid analysis. We report a case of a 9-year-old girl presenting
with three major and one minor feature of Gorlin-Goltz syndrome. Radiologic findings of the
syndrome are easily identifiable on Orthopantomogram, chest X-ray, and Computed tomography
scans. These investigations prompt an early verification of the disease, which is very important to
prevent recurrence and better survival rates from the coexistent diseases.
Key Words: Calcification of falx cerebri, fused ribs, Gorlin-Goltz syndrome, odontogenic

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