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Bannayan's syndrome

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A very rare familial disease with a predilection in males. It manifests with symmetrical macrocephaly without ventricular enlargement, mild neurological dysfunction, and postnatal growth retardation. Mesodermal hamartomas are present and most patients have discrete lipomas and haemangiomas. Associated disorders may include antimongoloid palpebral fissures, high-arched palate, joint hyperextensibility, pectus excavatum, strabismus, amblyopia, drooling, mental retardation, cerebral haemorrhage, and seizures. Inheritance is autosomal dominant.

D. Harris and William R. Smith, Oklahoma, in 1960 described a mother and four of her seven children with the trias of macrocephaly, pseudopapilledema, and multiple haemangiomas. G. A. Bannayan in 1971 described a single case with macrocephaly and multiple lipomas and haemangiomas. R. Ruvalcaba, S. Myhre, and David W. Smith, paediatricians, Seattle, in 1980 described two patients with macrocephaly, intestinal polyposis and spotted pigmentation of the shaft of penis.

Bibliography

  • Harris D. Riley, W. R. Smith:
    Macrocephaly, pseudopapilledema and multiple hemangiomata.
    Pediatrics, Evanston, Illinois, 1960, 26: 293-300.
  • G. A. Bannayan:
    Lipomatosis, angiomatosis, and macrocephalia: a previously undescribed congenital syndrome.
    Archives of Pathology, Chicago, 1971, 92: 1-5.
  • J. Zonana, et al:
    Macrocephaly with multiple lipomas and hemangiomas.
    Journal of Pediatrics, St. Louis, 1976, 89: 600-603.
  • R. H. A. Ruvalkaba, S. Myhre, D. W. Smith:
    Sotos syndrome with intestinal polyposis and pigmentary changes of the genitals.
    Clinical Genetics, Copenhagen, 1980, 18: 413-416.
  • J. H. Miles, J. Zonana, J. McFarlane, et al: Macrocephaly with hamartomas: Bannayan-Zonana syndrome.
    American Journal of Medical Genetics, New York, 1984, 19: 225-234.

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