Prenatal follow-up of hypophosphatasia by ultrasound: case report.
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.
van Dongen
P W
PW
Department of Obstetrics & Gynaecology, University Hospital Nijmegen, The Netherlands.
Hamel
B C
BC
Nijhuis
J G
JG
de Boer
C N
CN
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