Macrocephaly with hamartomas: Bannayan-Zonana syndrome

J. H. Miles, J. Zonana, J. Mcfarlane, K. A. Aleck, E. Bawle

Research output: Contribution to journalArticlepeer-review

61 Scopus citations


Familial macrocephaly with mesodermal hamartomas is described as a distinct syndrome in nine individuals from four families. Constant manifestations include symmetrical macrocephaly without ventricular enlargement, mild neurological dysfunction, and postnatal growth deceleration. Speech and motor delays observed in all the children were usually well compensated by adulthood. Two children had mild mental retardation and seizures which may have been related to intracerebral hemorrhage in one. Mesodermal hamartomas were present in affected persons from all four families, with 60% of individuals manifesting only discrete lipomas and hemangiomas. More serious tumors, including intracerebral hemangiomas, hemangiomatous involvement of the bone, and aggressive lipomas occurred in 40%. Other findings that make it possible to delineate a recognizable syndrome include down-slanting palpebral fissures (66%), a high palate (67%), joint hyperextensibility (55%), pectus excavatum (22%), strabismus or amblyopia (33%), and prolonged drooling (44%). The Bannayan-Zonana syndrome is an autosomal-dominant trait with male predominance of affected individuals.

Original languageEnglish (US)
Pages (from-to)225-234
Number of pages10
JournalAmerican Journal of Medical Genetics
Issue number2
StatePublished - Dec 1 1984
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Macrocephaly with hamartomas: Bannayan-Zonana syndrome'. Together they form a unique fingerprint.

Cite this