title: Campomelic syndrome: manifestations in a 20 week fetus and case history of a 5 year old child.
abstract: We report on 2 unusual cases of the campomelic syndrome, the first being a fetus in whom the diagnosis was suspected in the 18th week and confirmed sonographically at 20 weeks. The second case concerns a 5 year old 46, XY girl with an exceptional longevity and a relatively favorable evolution.
authors.affiliation: Department of Human Genetics, Institut de Morphologie Pathologique, Loverval, Belgium.
authors.forename: Y
authors.initials: Y
authors.lastname: Gillerot
authors.forename: C A
authors.initials: CA
authors.lastname: Vanheck
authors.forename: M
authors.initials: M
authors.lastname: Foulon
authors.forename: A
authors.initials: A
authors.lastname: Podevain
authors.forename: L
authors.initials: L
authors.lastname: Koulischer
mesh_terms: D000015:Abnormalities, Multiple; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D012734:Disorders of Sex Development; D005260:Female; D005315:Fetal Diseases; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D012120:Respiration Disorders; D013577:Syndrome