Trigonocephaly in Muenke syndrome.

Abstract

Saethre-Chotzen syndrome is caused by mutations in the TWIST gene on chromosome 7p21.2. However, Muenke et al. [(1997); Am J Hum Genet 91: 555-564] described a new subgroup carrying the Pro250Arg mutation in the fibroblast growth factor receptor (FGFR) 3 gene on chromosome 4p16. Uni or bicoronal synostosis appears to be the main clinical finding in both syndromes. We observed trigonocephaly as a new manifestation in Muenke syndrome. As a consequence we advise to routinely perform mutation analysis of the FGFR1, 2, and 3 genes in children with non-syndromic trigonocephaly.

• Authors: Jacques van der Meulen, Ans van den Ouweland, Jeannette Hoogeboom
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 140 Issue 22 Pg. 2493-4 (Nov 15 2006) ISSN: 1552-4825 [Print] United States
• PMID: 17036334 (Publication Type: Case Reports, Journal Article)
• Copyright: (c) 2006 Wiley-Liss, Inc.

Chemical References

• FGFR3 protein, human
• Receptor, Fibroblast Growth Factor, Type 3

Topics

• Amino Acid Substitution
• Craniosynostoses (diagnostic imaging, genetics)
• Humans
• Imaging, Three-Dimensional
• Infant
• Male
• Receptor, Fibroblast Growth Factor, Type 3 (genetics)
• Skull (abnormalities, diagnostic imaging)
• Syndrome
• Tomography, X-Ray Computed