title: Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome?
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 cerebellum, abnormally modeled cerebellum, and congenital aqueductal stenosis. To our knowledge, this combination of clinical signs involving the frontonasal process, midline lip clefting, congenital heart malformation, and severe CNS developmental abnormalities has not previously been reported. Clinical, imaging data, as well as differential diagnosis are discussed.
authors.affiliation: Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, São Paulo, Brazil. mlguion@centrinho.usp.br
authors.forename: Maria Leine
authors.initials: ML
authors.lastname: Guion-Almeida
authors.forename: A
authors.initials: A
authors.lastname: Richieri-Costa
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001934:Branchial Region / Q000002:abnormalities*; D002490:Central Nervous System / Q000002:abnormalities*; D002971:Cleft Lip / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome