title: Two cases further delineating the Sakoda complex.
abstract: Sakoda complex consists of sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft lip and/or palate. Associated abnormalities include optic disc dysplasia, microphthalmia, cortical dysgenesis, mental retardation and epilepsy. The etiology remains unknown. We describe two patients with anomalies consistent with the Sakoda complex including the cardinal features of sphenoethmoidal encephalomeningocele and cleft palate. The first patient also has right microphthalmia, optic nerve hypoplasia, diffuse pachygyria, asymmetric ventricles, atrial septal defect, hemivertebrae, and renal abnormalities. The second patient has right microphthalmia, absence of the right hemisphere, and a right bifid thumb. The features of Sakoda complex present in these patients may also overlap with frontonasal dysplasia and morning glory syndrome suggesting shared pathogenic relationships. We propose that the primary malformation of the Sakoda complex is probably genetic. The right hemispheric defect in Patient 2 suggests that at least some cases of Sakoda complex may also be associated with vascular disruption. Thus, more than one pathogenetic process contributes to the phenotypic spectrum of Sakoda complex.
authors.affiliation: Department of Human Genetics, The University of Chicago, Chicago, Illinois, USA. mdempsey@bsd.uchicago.edu
authors.forename: Melissa A
authors.initials: MA
authors.lastname: Dempsey
authors.forename: Wilfredo
authors.initials: W
authors.lastname: Torres-Martinez
authors.forename: Laurence E
authors.initials: LE
authors.lastname: Walsh
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D061085:Agenesis of Corpus Callosum; D002526:Cerebellar Diseases / Q000000981:diagnostic imaging / Q000473:pathology; D002971:Cleft Lip / Q000473:pathology; D002972:Cleft Palate / Q000473:pathology; D004677:Encephalocele / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D008297:Male; D008588:Meningocele / Q000473:pathology; D011859:Radiography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging