Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis

Frontonasal malformation, first branchia

Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: A possible “new” autosomal recessive syndrome?

✍ Maria Leine Guion-Almeida; A. Richieri-Costa 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 200 KB

## Abstract Here we report on a girl presenting with midline cleft lip/palate, prominent forehead, macrocephaly, first branchial arch anomalies, and tetralogy of Fallot. Imaging studies showed polymicrogyria, enlarged ventricles with a large cystic lesion extending postero‐superiorly over the cereb