Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome).
We report on a stillborn boy with frontonasal malformation (Sedano-Jiràsek type D-DeMyer type I), associated with encephalocoele, occipital meningocele and preaxial polydactyly of the feet. This form of frontonasal dysplasia was documented previously in a few other cases with various combinations of postaxial polydactyly, tibial hypoplasia, epibulbar dermoid, occipital encephalocoele, corpus callosum agenesis and Dandy-Walker malformation. Most cases are sporadic.
Verloes
A
A
Centre for Human Genetics, Liège University, Belgium.
Gillerot
Y
Y
Walczak
E
E
Van Maldergem
L
L
Koulischer
L
L
D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000002:abnormalities*; D005260:Female; D006257:Head / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*