title: Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum.
abstract: We report on a female infant with a metaphyseal dysplasia and a neuronal migration abnormality consistent with a diagnosis of Sedaghatian spondylometaphyseal dysplasia. This child, born to nonconsanguineous Caucasian parents, was hypotonic from birth and experienced recurrent cyanotic episodes within a few hours of delivery. Cerebral imaging revealed absence of the corpus callosum and marked frontotemporal pachygyria. She developed seizures on day 14 of life and died at the age of 17 days. Our case highlights the possibility for neuronal migration abnormalities in Sedaghatian spondylometaphyseal dysplasia and suggests a novel association of the disorder with agenesis of the corpus callosum.
authors.affiliation: Department of Neonatal Medicine, Leeds General Infirmary, Leeds, United Kingdom. Sharon.English@leedsth.nhs.uk
authors.forename: Sharon J
authors.initials: SJ
authors.lastname: English
authors.forename: Neti
authors.initials: N
authors.lastname: Gayatri
authors.forename: Rosemary
authors.initials: R
authors.lastname: Arthur
authors.forename: Yanick J
authors.initials: YJ
authors.lastname: Crow
mesh_terms: D061085:Agenesis of Corpus Callosum; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D001921:Brain / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging; D011859:Radiography