title: The Neu-Laxova syndrome in female sibs: clinical and pathological features with prenatal diagnosis in the second sib.
abstract: We report on affected sisters with the Neu-Laxova syndrome. Prenatal diagnosis of the condition was achieved by serial ultrasound examinations which demonstrated abnormal fetal growth in the second affected fetus before 24 weeks gestation.
authors.forename: J L
authors.initials: JL
authors.lastname: Tolmie
authors.forename: G
authors.initials: G
authors.lastname: Mortimer
authors.forename: D
authors.initials: D
authors.lastname: Doyle
authors.forename: R
authors.initials: R
authors.lastname: McKenzie
authors.forename: J
authors.initials: J
authors.lastname: McLaurin
authors.forename: J P
authors.initials: JP
authors.lastname: Neilson
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D003241:Consanguinity; D005145:Face / Q000002:abnormalities; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D007057:Ichthyosis / Q000235:genetics; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography