| Literature DB >> 2764028 |
Abstract
We report on an 8 1/2-year-old boy with slowly progressive macrocephaly, psychomotor retardation, multiple subcutaneous angiolipomas, hypertelorism, exotropia, prolonged drooling, cutis marmorata, telangiectasia, congenital heart defect, broad thumbs and great toes, and muscle wasting. The syndrome is similar to the Bannayan-Zonana syndrome and seems to be inherited as an autosomal dominant trait. The father has partial manifestations of the syndrome.Entities:
Mesh:
Year: 1989 PMID: 2764028 DOI: 10.1002/ajmg.1320330209
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299