title: [Chondrodysplasia punctata. Report of four cases in two sibships].
abstract: Chondrodysplasia punctata has very diverse clinical and radiological features. Its diagnosis may be suggested as early as in the neonatal period in front of an abnormal facial appearance, sometimes associated with bone and vertebrae defects. Radiological exams will assert it. Its subsequent course depends on the accompanying visceral abnormalities. Genetics advice is closely related to these. Ultrasonography is the only actual possibility of prenatal diagnosis. However our attitude must be guided by the clinical course (of the disease) of the initial case in the sibship.
authors.affiliation: Département de Pédiatrie et Génétique Médicale, C.H.U. Morvan, Brest.
authors.forename: P
authors.initials: P
authors.lastname: Parent
authors.forename: A
authors.initials: A
authors.lastname: Le Gonidec
authors.forename: H
authors.initials: H
authors.lastname: Le Guern
authors.forename: M
authors.initials: M
authors.lastname: Thomas
authors.forename: L
authors.initials: L
authors.lastname: Toudic
authors.forename: M
authors.initials: M
authors.lastname: Bellet
authors.forename: Y
authors.initials: Y
authors.lastname: Castel
mesh_terms: D002806:Chondrodysplasia Punctata / Q000175:diagnosis* / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D011296:Prenatal Diagnosis
vernacular_title: La chondrodysplasie ponctuée. A propos de quatre observations en deux fratries.