title: Greig cephalopolysyndactyly syndrome in a large family: a comparison of the clinical signs with those described in the literature.
abstract: We report on a four generation family with Greig cephalopolysyndactyly syndrome. The clinical variability of the malformations of hands and feet is described. A review of the literature is given, with emphasis on the frequency of clinical signs of the Greig cephalopolysyndactyly syndrome. Polydactyly of the hands and feet are possibly an underestimated feature in Greig syndrome. We suggest that radiographs of the hands and feet should be performed in every patient, especially those with broad thumbs. The resemblance of preaxial polydactyly type 4 and crossed polydactyly with Greig syndrome is discussed. These disorders may be allelic.
authors.affiliation: Clinical Genetics Center Utrecht, The Netherlands.
authors.forename: M G
authors.initials: MG
authors.lastname: Ausems
authors.forename: P F
authors.initials: PF
authors.lastname: Ippel
authors.forename: P A
authors.initials: PA
authors.lastname: Renardel de Lavalette
mesh_terms: D000328:Adult; D005147:Facial Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005190:Family; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D017689:Polydactyly / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging