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

• Published in: American journal of medical genetics. Part A 2006-11, Vol.140A (22), p.2478-2481
• Main Authors: Guion-Almeida, Maria Leine, Richieri-Costa, A.
• Format: Article
• Language: English
• Subjects: "new syndrome"; Abnormalities, Multiple - genetics; autosomal recessive inheritance; Biological and medical sciences; branchial arch; Branchial Region - abnormalities; Central Nervous System - abnormalities; central nervous system anomalies; Cleft Lip - genetics; Craniofacial Abnormalities - genetics; Facial bones, jaws, teeth, parodontium: diseases, semeiology; Female; frontonasal malformation; Genes, Recessive; Heart Defects, Congenital - genetics; Humans; Infant, Newborn; Medical genetics; Medical sciences; midline cleft lip/alveolar ridge; Non tumoral diseases; Otorhinolaryngology. Stomatology; Syndrome
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.31518

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. © 2006 Wiley‐Liss, Inc.