title: The Peters'-Plus syndrome: description of 16 patients and review of the literature.
abstract: Peters'-Plus syndrome is characterized by Peters' anomaly, a typical face, cleft lip and palate, short limb dwarfism, and developmental retardation. We report the follow-up of six patients in the original report, 10 yet unreported patients, and review 26 patients that have been reported in the literature. The spectrum of the syndrome is broadened by data from affected sibs which indicate that a wider range of anterior chamber cleavage disorders may be present, a cleft lip or palate need not be present, and developmental retardation may be mild or even absent. An increased foetal loss in families with Peters'-Plus syndrome may indicate intrauterine death of some foetuses affected by the syndrome. The pattern of inheritance is autosomal recessive.
authors.affiliation: Institute for Human Genetics, State University Amsterdam, The Netherlands.
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: M J
authors.initials: MJ
authors.lastname: Van Schooneveld
authors.forename: H H
authors.initials: HH
authors.lastname: Ardinger
authors.forename: M J
authors.initials: MJ
authors.lastname: Van Den Boogaard
authors.forename: D
authors.initials: D
authors.lastname: Friedburg
authors.forename: S
authors.initials: S
authors.lastname: Rudnik-Schoneborn
authors.forename: J H
authors.initials: JH
authors.lastname: Seguin
authors.forename: K B
authors.initials: KB
authors.lastname: Weatherstone
authors.forename: D
authors.initials: D
authors.lastname: Wittebol-Post
authors.forename: P
authors.initials: P
authors.lastname: Meinecke
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics; D004392:Dwarfism / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome