Prenatal diagnosis of Juberg-Hayward syndrome.
Juberg-Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg-Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg-Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate.
Couvreur-Lionnais
Stéphanie
S
Clinique Gynécologique et Obstétricale, Centre Hospitalier Universitaire, Dijon, France. stephanie.couvreur@chu-dijon.fr
Rousseau
Thierry
T
Laurent
Nicole
N
Thauvin-Robinet
Christel
C
Senet-Lacombe
Eve
E
Delezoïde
Anne Lise
AL
Mugneret
Francine
F
Durand
Christine
C
Faivre
Laurence
L
Sagot
Paul
P
D000028:Abortion, Induced; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009958:Orofaciodigital Syndromes / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000196:embryology; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal