title: Fryns syndrome without deletion 16q.
abstract: Fryns and his colleagues described two children with a remarkably similar phenotype, and suggested their condition was due to a partial or total deletion of the long arm of chromosome 16 distal to band q21. We report the same phenotype in a boy whose blood karyotype was normal.
mesh_terms: D002872:Chromosome Deletion; D002902:Chromosomes, Human, 16-18; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome