title: Prenatal diagnosis of Juberg-Hayward syndrome.
abstract: 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.
authors.affiliation: Clinique Gynécologique et Obstétricale, Centre Hospitalier Universitaire, Dijon, France. stephanie.couvreur@chu-dijon.fr
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Couvreur-Lionnais
authors.forename: Thierry
authors.initials: T
authors.lastname: Rousseau
authors.forename: Nicole
authors.initials: N
authors.lastname: Laurent
authors.forename: Christel
authors.initials: C
authors.lastname: Thauvin-Robinet
authors.forename: Eve
authors.initials: E
authors.lastname: Senet-Lacombe
authors.forename: Anne Lise
authors.initials: AL
authors.lastname: Delezoïde
authors.forename: Francine
authors.initials: F
authors.lastname: Mugneret
authors.forename: Christine
authors.initials: C
authors.lastname: Durand
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: Paul
authors.initials: P
authors.lastname: Sagot
mesh_terms: 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