Abstract
A 24-week-old fetus is described here with holoprosencephaly sequence (arhinencphaly and agensis of the corpus callosum) associated with brain and meningeal dysplasia, microphthalmia with an ectopic pigementary layer, hypothalamic hamartoblastoma, preaxial asymmetric limb reduction, lung hypoplasia, gastric hypoplasia, Müllerian regression, intestinal malrotation, asplenia and normal chromosomes. The differential diagnosis includes the Cerebroacrovisceral-Early Lethality (CAVE) phenotype, and the Pallister-Hall syndrome, but the anomalies best fit the severe form of microgastira-limb reduction syndrome. Together with a previous case reported by Meinecke, the pattern of anomalies appears to represent a combination of defects, related to but distinct from the microgastira-limb reduction syndrome.
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