Authors: Carla Fernandez Marie Soulier Béma Coulibaly Agnès Liprandi Bernard Benoit Fabienne Giuliano Sabine Sigaudy Dominique FigarellaBranger Catherine FalletBianco
Publish Date: 2007/06/26
Volume: 115, Issue: 1, Pages: 151-156
Abstract
Acrocallosal syndrome ACS is an autosomal recessive disorder characterized by craniofacial dysmorphism agenesis or hypoplasia of the corpus callosum duplication of the phalanges of the hallux more rarely the thumbs postaxial polydactyly syndactyly and severe mental retardation Here we report the two first descriptions of acrocallosal syndrome in fetus with extensive neuropathological study and provide new data regarding additional brain abnormalities in ACS The first case was a 25gestational week male fetus displaying craniofacial and limb abnormalities with bilateral syndactyly of the fourth and fifth fingers preaxial polydactyly of the left foot and an interfrontal extrabone The second fetus was a 33gestational week male fetus His left hand displayed a broad thumb and 4/5 syndactyly In both cases gross examination of the brain showed an absence of corpus callosum associated with interhemispheric cysts The cerebral cortex in front of the cysts was nodular Upon microscopic examination the nodular masses corresponded to large dysplastic areas represented by clusters of undifferentiated neurons in the white matter The cyst wall showed arachnoidal and ependymal covering and contained numerous choroid plexus suggesting a developmental abnormality of the ventricles The pons and the cerebellum were hypoplastic The dentate nuclei were fragmented Numerous neuronal heterotopias associated with ectopic ependymal cavities were observed in the vermis in one case The olivary nuclei were severely dysplastic too We hope that these new data will make both the ante and postnatal diagnosis easier facilitate comparisons with animal models and encourage the identification of the genes responsible for this syndrome
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