Frontonasal "dysplasia," cerebral anomalies, and polydactyly: report of a new syndrome and discussion from a developmental field perspective.
We describe a boy with frontonasal "dysplasia"; cerebral anomalies, including agenesis of corpus callosum and probable Dandy-Walker malformation (absent superior vermis, hypoplastic cerebellum and brain stem, and possible posterior fossa cyst in this case); short neck, relatively long trunk with short limbs; cryptorchidism; and polydactyly of hands and feet. We suspect he has a previously undescribed syndrome of presently unknown cause. We also discuss this case from a developmental field perspective, in view of the unusual combination of cerebral and facial defects.
Toriello
H V
HV
Blodgett Memorial Medical Center, Genetics/Birth Defects/Neurology Clinic, Grand Rapids, MI 49506.
Radecki
L L
LL
Sharda
J
J
Looyenga
D
D
Mann
R
R
D000015:Abnormalities, Multiple; D001921:Brain / Q000002:abnormalities*; D002871:Chromosome Banding; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome