title: Achondroplasia in sibs of normal parents.
abstract: A new case of recurrent achondroplasia in sibs of normal parents is reported. Two sisters and a half sister were affected. Various mechanisms can be postulated to account for unexpected recurrence of achondroplasia in the same sibship. Germinal mosaicism and unstable premutation are discussed here.
authors.affiliation: Centre de Génétique Médicale et INSERM U242, Hôpital d'Enfants de la Timone, Marseille, France.
authors.forename: N
authors.initials: N
authors.lastname: Philip
authors.forename: M
authors.initials: M
authors.lastname: Auger
authors.forename: J F
authors.initials: JF
authors.lastname: Mattei
authors.forename: F
authors.initials: F
authors.lastname: Giraud
mesh_terms: D000130:Achondroplasia / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree