Slowly progressive macrocephaly with hamartomas: a new syndrome?
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.
Halal
F
F
Department of Medical Genetics, Montreal Children's Hospital, McGill University, Quebec, Canada.
Silver
K
K
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000886:Anthropometry; D002648:Child; D003241:Consanguinity; D005799:Genes, Dominant; D006222:Hamartoma / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics*; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome