Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
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.
O'Driscoll
Mary C
MC
Medical Genetics Research Group and Regional Genetics Service, St Mary's Hospital, Manchester, UK. mary.odriscoll@nhs.net
Jenny
Kim
K
Saitta
Sulagna
S
Dobyns
William B
WB
Gripp
Karen W
KW
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