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Prenatal diagnosis of Juberg–Hayward syndrome
Author(s) -
CouvreurLionnais Stéphanie,
Rousseau Thierry,
Laurent Nicole,
ThauvinRobinet Christel,
SenetLacombe Eve,
Delezoïde Anne Lise,
Mugneret Francine,
Durand Christine,
Faivre Laurence,
Sagot Paul
Publication year - 2005
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.943
Subject(s) - microcephaly , agenesis of the corpus callosum , prenatal diagnosis , medicine , agenesis , corpus callosum , corpus callosum agenesis , hypoplasia , cerebellar hypoplasia (non human) , ventriculomegaly , hydrocephalus , pediatrics , arthrogryposis , anatomy , pregnancy , surgery , fetus , cerebellum , biology , genetics
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. Copyright © 2005 John Wiley & Sons, Ltd.