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Genome instability and mutation
[Macrocephaly and multiple hamartoma: a very variable entity].
The Bannayan-Zonana is a dominant autosomal polymalformation syndrome.
CASE REPORT:
We report a case of Bannayan-Zonana syndrome in a 3-year-old girl, who presented with macrocephaly and a cervical lipoma. The patient's mother had neurofibromatosis I. No mutation in the PTEN gene was found. The slowly progressive lipoma increased with age and the surgical reduction was necessary.
COMMENTARIES:
Macrocephaly is constant in different syndromes characterized with multiple hamartomas. The multiple hamartomas syndrome represents an entity with a high variability of expression.
Substances: