Familial case of Gorlin-Goltz syndrome associated with craniosynostosis
DOI:
https://doi.org/10.5935/2525-5711.20170006Palabras clave:
Basal Cell Nevus Syndrome, Odontogenic Tumors, Nevus, Pigmented, Cranial SuturesResumen
Gorlin-Goltz Syndrome is inherited as an autosomal dominant disorder and occurs due to mutations in the PTCH1 (Patched 1) gene. It is characterized by multiple keratocystic odontogenic tumors, multiple basal cell carcinomas, skeletal, ophthalmic, neurological ab- normalities and facial dysmorphism. Craniosynostosis is the premature fusion of calvarial bones leading to an abnormal head shape. In addition to all the classical features, presence of craniosynostosis in one of our cases was an interesting finding which has never been reported previously in Gorlin-Goltz syndrome. Giant congenital melanocytic nevus was also present making the case more unique.
Citas
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Derechos de autor 1969 Ravi Prakash Sasankoti Mohan, Akanksha Gupta, Nagaraju Kamarthi
Esta obra está bajo una licencia internacional Creative Commons Atribución 4.0.