title: [Genetic counseling in craniostenosis. Results of a prospective study performed with a group of studies on craniofacial malformations].
abstract: Result of a family study based on 584 patients with craniostenosis brings some answers useful for genetic counselling. For 98 patients (15%) a syndrome is associated. Third part of them has Apert syndrome, an other third part has Crouzon syndrome, and for the last third more exceptional acrocephalosyndactyly syndrome (Saethre-Chotzen, Pfeiffer) or others atypical associations, sometimes not yet described, but with an autosomal dominant inheritance. Non syndromic craniostenosis involves differently according to the type of join, but the localization is the same if recurrence will be happen. Coronal craniostenosis seems to be a dominant autosomal character, when scaphocephaly is more often sporadic; for both, an autosomal dominant inheritance is not excluded for some pedigrees. If the recurrence risk exist in some cases, it is generally well accepted by parents on account of the good neurosurgeon prognosis.
authors.affiliation: Clinique et Unité de Recherches de Génétique Médicale, Hôpital des Enfants Malades, Paris.
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: V
authors.initials: V
authors.lastname: Ledinot
authors.forename: D
authors.initials: D
authors.lastname: Renier
authors.forename: D
authors.initials: D
authors.lastname: Marchac
authors.forename: M L
authors.initials: ML
authors.lastname: Briard
mesh_terms: D004413:Dysostoses / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities*; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D011446:Prospective Studies; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
vernacular_title: Conseil génétique dans les crâniosténoses. Bilan d'une étude prospective réalisée avec le groupe d'études sur les malformations crâniofaciales.