Literature DB >> 2764028

Slowly progressive macrocephaly with hamartomas: a new syndrome?

F Halal1, K Silver.   

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.

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Year:  1989        PMID: 2764028     DOI: 10.1002/ajmg.1320330209

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  Cowden Syndrome.

Authors:  C Eng
Journal:  J Genet Couns       Date:  1997-06       Impact factor: 2.537

  1 in total

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