Monozygotic twins concordant for Crouzon syndrome

✍ Scribed by Noriko Funato; Junko Nohtomi-Ohyama; Kimie Ohyama

• Publisher: John Wiley and Sons
• Year: 2005
• Tongue: English
• Weight: 24 KB
• Volume: 133A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.30581

✦ Synopsis

We have observed two female identical twins with Crouzon syndrome with an FGFR2 mutation. The twins were born to a 25-year-old Japanese mother and a 31-year-old father. No other member of the family had Crouzon syndrome. Monozygosity and concordance for Crouzon syndrome were established by DNA sequence. Molecular analysis detected a de novo FGFR2 mutation: 1061C ! G, resulting in Ser354Cys, which is common in Crouzon syndrome. Over 30 mutations on FGFR2 have been recorded and these have been reviewed elsewhere [Cohen, 2004].

Both twins had classical manifestations of Crouzon syndrome. Synostosis involved the coronal and lambdoid sutures. The only phenotypic differences found were hydrocephalus and occipitocervical fusion in one twin.