Premium
Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum
Author(s) -
English Sharon J.,
Gayatri Neti,
Arthur Rosemary,
Crow Yanick J.
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31376
Subject(s) - pachygyria , corpus callosum , agenesis of the corpus callosum , abnormality , medicine , dysplasia , corpus callosum agenesis , cortical dysplasia , agenesis , anatomy , pathology , magnetic resonance imaging , radiology , lissencephaly , psychiatry , biology , biochemistry , gene
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. © 2006 Wiley‐Liss, Inc.