title: Say syndrome: report of a familial case.
abstract: We describe a new case of Say syndrome. This syndrome is an autosomal dominant condition characterized by cleft palate, short stature of prenatal onset, large protruding ears and microcephaly, delayed bone age, and renal anomalies. The first report was in 1975 by Say et al. in three generations of a family. Three additional reports of isolated cases were published. Our propositus is a 12-month-old boy with the cardinal signs of the syndrome whose mother has only microcephaly. To our knowledge this is the second familial report with evidence of highly variable expressivity. The occurrence of renal anomalies in a son of a normal sister of his mother suggests incomplete penetrance.
authors.affiliation: Department of Genetics, Universidade Federal do Paraná, Curitiba, Paraná, Brazil. nbpagnan@bio.ufpr.br
authors.forename: N A
authors.initials: NA
authors.lastname: Pagnan
authors.forename: E M
authors.initials: EM
authors.lastname: Ribeiro
authors.forename: F
authors.initials: F
authors.lastname: Poerner
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002972:Cleft Palate / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities; D005192:Family Health; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D013577:Syndrome