title: Prenatal follow-up of hypophosphatasia by ultrasound: case report.
abstract: Hypophosphatasia with lung hypoplasia forms a lethal combination. A case with an a priori risk of 25% is reported in which the diagnosis was made by ultrasound.
authors.affiliation: Department of Obstetrics & Gynaecology, University Hospital Nijmegen, The Netherlands.
authors.forename: P W
authors.initials: PW
authors.lastname: van Dongen
authors.forename: B C
authors.initials: BC
authors.lastname: Hamel
authors.forename: J G
authors.initials: JG
authors.lastname: Nijhuis
authors.forename: C N
authors.initials: CN
authors.lastname: de Boer
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001842:Bone and Bones / Q000002:abnormalities; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1; D005260:Female; D005325:Fetal Organ Maturity / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis*; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008099:Liver / Q000002:abnormalities; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography