Sedaghatian type of spondylometaphyseal dysplasia and concurrent anomalies

Abstract To date 16 cases of Sedaghatian type of spondylometaphyseal dysplasia have been reported mainly in the neonatal period. We report on a female fetus with increased nuchal thickness at 12 weeks and Sedaghatian type of spondylometaphyseal dysplasia with absence of the corpus callosum and pachygyria at 18 weeks of gestation. A follow-up ultrasound at 18 weeks was performed due to the increased nuchal thickness with normal karyotype; rhizomelic shortening of the long bones, a small fetal thorax and cerebral ventriculomegaly were present. Pathological examination revealed Sedaghatian type of spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum. To our knowledge, this is the earliest diagnosis of Sedaghatian type of spondylometaphyseal dysplasia with absence of the corpus callosum and the first reported case with increased nuchal thickness.