Prenatal ultrasonographic diagnosis of a recurrent case of Johanson-Blizzard syndrome.
We report on ultrasonographic prenatal diagnosis of a recurrent case of Johanson-Blizzard syndrome. The pregnancy was terminated at 21 weeks'. This observation highlights the great variability of the expression of this syndrome, including in the same family, and the necessity of collaborating with an experienced geneticist in all antenatal diagnosis of any complex of abnormalities.
Neonatology Unit, Department of Paediatrics and medical genetics, CHU, Hôtel Dieu, Clermont-Ferrand, France. pvanlieferinghen@chu-clermontferrand.fr
Ph
P
Vanlieferinghen
D
D
Gallot
Ch
Ch
Francannet
F
F
Meyer
P
P
Dechelotte
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D000025:Abortion, Eugenic; D001006:Anus, Imperforate / Q000000981:diagnostic imaging* / Q000235:genetics; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006869:Hydronephrosis / Q000000981:diagnostic imaging / Q000235:genetics; D007231:Infant, Newborn; D017044:Polycystic Kidney, Autosomal Recessive / Q000000981:diagnostic imaging / Q000235:genetics; D011247:Pregnancy; D012008:Recurrence; D016216:Ultrasonography, Prenatal