Atypical Skin Manifestations in &lt;b&gt;&lt;i&gt;FGFR2&lt;/i&gt;&lt;/b&gt;-Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum

LeBlanc, Shannon; David, David; Colley, Alison; Buckley, Michael F.; Roscioli, Tony; Barnett, Christopher

doi:10.1159/000488439

Cited by 2 publications

(2 citation statements)

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“…Subsequently, three sporadic CS cases with this pathogenic variant were reported, all of which were typical CS without limb abnormalities (Lajeunie et al, ) (Roscioli et al, ) (Ke, Yang, Ge, et al, ). Recently, c.799T>C in a CS patient with slightly broad thumbs, prominent umbilical stump, broad halluces, and cutis gyrata was reported by LeBlanc (LeBlanc et al, ). In this study, a three‐generation CS family with c.799T>C FGFR2 was first described.…”

Section: Discussionmentioning

confidence: 88%

Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2

Lin

et al. 2019

Molec Gen & Gen Med

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Background Crouzon syndrome is a rare and complex autosomal dominant craniosynostosis syndrome with a prevalence of approximately 1 in 60,000 births. The typical features are craniosynostosis, proptosis, midfacial hypoplasia, and noncranial manifestations, including deformities in the cervical spine, elbow, and fingers. Crouzon syndrome is usually caused by pathogenic variants in the fibroblast growth factor receptor 2 (FGFR2) gene. Methods We reported a three‐generation family with Crouzon syndrome; the proband showed extremely severe limb abnormalities. The clinical features were obtained by physical examination and radiographic examination. Sanger sequencing of all 18 exons of FGFR2 was conducted to identify the disease‐causing mutation. Results The proband was a 44‐year‐old man who showed characteristics of Crouzon syndrome, including craniofacial dysostosis, shallow orbits, proptosis, midface hypoplasia, beaked nose, strabismus, short superior lip, short stature, and neck injection. In addition to these typical characteristics, radiographic examination showed severe scoliosis, heterotopic ossification of the elbows, knee osteoarthritis, metacarpophalangeal joint valgus, collapse of the articular surface of the thumb metacarpal, knuckle ossification and fusion. Sanger sequencing identified a heterozygous pathogenic variant c.799T>C, p.(Ser267Pro) in exon 7 of FGFR2 in affected individuals. Conclusion Crouzon syndrome in this three‐generation family was caused by c.799T>C FGFR2, and the patient showed a different phenotypic appearance from other Crouzon patients with c.799T>C FGFR2.

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Section: Discussionmentioning

confidence: 88%

Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2

Lin

et al. 2019

Molec Gen & Gen Med

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“…Beare-Stevenson syndrome and Crouzon syndrome patients share a mutation: (c.799T>C; p.S267P); however, there is a mutation that is unique to Beare-Stevenson syndrome patients: an in-frame deletion (c.820_824delinsTT; p.V274_ Q275delinsL) [24].…”

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confidence: 99%

The Genetics and Learning Disorders of the Syndromes Involving Craniosynostosis

Makkar¹,

Paul²,

Paul³

et al. 2021

Appl Cell Biol

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Prenatal genetic vehicles that lead to facial and cranial dysmorphias, specifically craniosynostosis, are seen in a spectrum of synostotic syndromes that include apert, crouzon, Kleeblattschadel deformity, saethre-chotzen, muenke, cranio-fronto-nasal syndrome, Robinow-Sorauf syndrome and beare-stevenson-cutis-gyrata syndrome. Specific genes involved in cranio-synostotic syndromes include: TWIST1, EFNB1, GLI2, DMD, YWHAE, IRAK2, FGFR1, FGFR2, FGFR3, CNTNAP2, ADAMTS18, SKI, MECP2, KIFBP, TCF12, H2AL1P, GAGE12D and possibly HDAC9. Regarding protein expression, conserved domains found in rpsblast for craniosynostosis using the NCBI homologene tool show IGc2 (smart00408) immunoglobulin C-2 Type, PKc_like (cl09925) Protein Kinases, catalytic domain, Ig (cl11960) Immunoglobulin domain. A discussion of all the syndromes involving craniosynostosis is beyond the scope of this paper. We will discuss the clinical features, genetics, cognitive development and associated psychiatric conditions of the more common syndromes involving craniosynostosis. We theorize that the clinical features and genetics of craniosynostosis involve a spectrum of syndromes on which there is variable severity and involvement of impaired cognition and developmental disorders.

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Atypical Skin Manifestations in <b><i>FGFR2</i></b>-Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum

Cited by 2 publications

References 24 publications

Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2

Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2

The Genetics and Learning Disorders of the Syndromes Involving Craniosynostosis

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