title: Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome).
abstract: 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.
authors.affiliation: Centre for Human Genetics, Liège University, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: Y
authors.initials: Y
authors.lastname: Gillerot
authors.forename: E
authors.initials: E
authors.lastname: Walczak
authors.forename: L
authors.initials: L
authors.lastname: Van Maldergem
authors.forename: L
authors.initials: L
authors.lastname: Koulischer
mesh_terms: 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*