Rare Case of Syndromic Multi-suture Craniosynostosis


Primary Author: Alexandra Halloran DO

Mentor: Rafael Fonseca MD

Abstract:

Craniosynostosis is a condition in which the cranial sutures fuse prematurely affecting skull and

brain growth, neurodevelopment, and proper respiratory and sensory functioning. Most recent

data shows that the prevalence of this condition is between 1 in 2100 to 2500 live births per year

worldwide. Craniosynostosis may involve only one suture or multiple sutures, and the resultant

skull deformity depends on where the premature fusion occurs. About 13% of cases involve

multiple sutures and 20% of cases are caused by specific chromosomal abnormalities or gene

mutations. Multi-suture craniosynostosis tends to be much more severe and a multi-disciplinary

approach is required when managing these patients.

The following is a case report of a 2 year old female with multiple suture craniosynostosis,

clover-leaf skull syndrome, FGFR2 mutation, ventriculomegaly, hydrocephalus, hypoplasia of

maxilla and mandible, craniovertebral skeletal abnormalities, bilateral humeroulnar synostosis,

choanal atresia, seizure disorder, and G-tube dependency. The patient in this case was found to

have a pathogenic variant c. 1052C>G (p.Ser351Cys) identified in the FGFR2 gene. This exact

variant has been reported in a small number of syndromic craniosynostosis cases including

severe Pfeiffer syndrome and Antley-Bixler syndrome, however, it does not provide genotypephenotype

correlation. Due to the rarity of this specific gene mutation in syndromic cases of

craniosynostosis, it is difficult to predict phenotypic variations, possible outcomes and prognosis

in these patients. Hopefully this case report will add more knowledge to what little is known with

the FGFR2 Ser351Cys gene mutation in syndromic craniosynostosis.

References:

1. Goos JAC, Mathijssen IMJ. Genetic Causes of Craniosynostosis: An Update. Mol

Syndromol. 2019 Feb;10(1-2):6-23. doi: 10.1159/000492266. Epub 2018 Aug 15. PMID:

30976276; PMCID: PMC6422124.

2. National Center for Biotechnology Information. ClinVar; [VCV000013286.9], https://

www.ncbi.nlm.nih.gov/clinvar/variation/VCV000013286.9 (accessed April 30, 2022).

3. Betances EM, Mendez MD, M Das J. Craniosynostosis. [Updated 2022 Mar 15]. In:

StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from:

https://www.ncbi.nlm.nih.gov/books/NBK544366/

4. Lajeunie E, Heuertz S, El Ghouzzi V, Martinovic J, Renier D, Le Merrer M, Bonaventure J.

Mutation screening in patients with syndromic craniosynostoses indicates that a limited

number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. Eur J

Hum Genet. 2006 Mar;14(3):289-98. doi: 10.1038/sj.ejhg.5201558. PMID: 16418739.

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