title: Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
abstract: We present double first cousins, a girl and a boy, with the uncommon association of agenesis of the corpus callosum and congenital lymphedema. Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality. While some of these findings overlap with FG syndrome and Hennekam syndrome, the findings in our patients are sufficiently different to exclude these diagnoses. We propose that this is a new syndrome with presumed autosomal recessive inheritance.
authors.affiliation: Medical Genetics Research Group and Regional Genetics Service, St Mary's Hospital, Manchester, UK. mary.odriscoll@nhs.net
authors.forename: Mary C
authors.initials: MC
authors.lastname: O'Driscoll
authors.forename: Kim
authors.initials: K
authors.lastname: Jenny
authors.forename: Sulagna
authors.initials: S
authors.lastname: Saitta
authors.forename: William B
authors.initials: WB
authors.lastname: Dobyns
authors.forename: Karen W
authors.initials: KW
authors.lastname: Gripp
mesh_terms: D055673:Acrocallosal Syndrome / Q000150:complications*; D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008209:Lymphedema / Q000150:complications* / Q000151:congenital*; D008279:Magnetic Resonance Imaging; D008297:Male; D011247:Pregnancy; D013577:Syndrome