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: A Verloes, Y Gillerot, E Walczak, L Van Maldergem, L Koulischer
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 42 Issue 2 Pg. 180-3 (Jan 15 1992) ISSN: 0148-7299 [Print] United States
• PMID: 1733166 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Abnormalities, Multiple (classification, genetics, pathology)
• Brain (abnormalities)
• Female
• Head (abnormalities)
• Humans
• Infant, Newborn
• Male
• Phenotype
• Pregnancy
• Syndrome
• Toes (abnormalities)