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Trigonocephaly in Muenke syndrome
Jacques van der Meulen1, Ans van den Ouweland, Jeannette Hoogeboom
1Department of Plastic and Reconstructive Surgery, Dutch National Craniofacial Center, Erasmus Medical Centre, Rotterdam, The Netherlands. j.vandermeulen@erasmusmc.nl
American Journal of Medical Genetics. Part A
|October 13, 2006
Summary
Saethre-Chotzen syndrome and Muenke syndrome share coronal synostosis. Researchers identified trigonocephaly as a new Muenke syndrome manifestation, recommending FGFR gene analysis for non-syndromic trigonocephaly.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Saethre-Chotzen syndrome is linked to TWIST gene mutations.
- Muenke syndrome, associated with fibroblast growth factor receptor (FGFR) 3 gene mutations, presents with uni- or bicoronal synostosis.
Observation:
- Trigonocephaly, a premature fusion of the frontal bone, was observed as a novel manifestation in Muenke syndrome.
- This finding expands the known clinical spectrum of Muenke syndrome.
Findings:
- The Pro250Arg mutation in the fibroblast growth factor receptor (FGFR) 3 gene is implicated in a subgroup of Muenke syndrome.
- Uni- or bicoronal synostosis is a primary clinical feature in both Saethre-Chotzen and Muenke syndromes.
Implications:
- Routine mutation analysis of FGFR1, FGFR2, and FGFR3 genes is recommended for children diagnosed with non-syndromic trigonocephaly.
- This diagnostic approach may aid in identifying Muenke syndrome and other related genetic conditions earlier.
