The Neu-Laxova syndrome in female sibs: clinical and pathological features with prenatal diagnosis in the second sib.
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.
Tolmie
J L
JL
Mortimer
G
G
Doyle
D
D
McKenzie
R
R
McLaurin
J
J
Neilson
J P
JP
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