Computed tomography findings of Crouzon syndrome: A case report

Neira, Juan Guillermo Arámbula; Herazo, Valeria del Castillo; Cuenca, Nury Tatiana Rincón; Cano, Angélica M. Sanabria; Sarmiento, Maryi Fernanda Bermudez; Castro, María Florencia; Ortiz, Andrés Felipe Herrera

doi:10.1016/j.radcr.2022.01.060

Cited by 2 publications

(7 citation statements)

References 15 publications

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“…CS is the result of an autosomal dominant disorder at the chromosomal locus, 10q25.3-q26, of the FGFR2 gene, with more than 30 possible mutations documented to date [ 2 ]. Craniosynostotic syndromes result from mesenchymal and ectodermal abnormalities, the latter playing a critical role in brain embryogenesis [ 3 ]. Premature fusion of cranial sutures limits brain growth perpendicular to that suture, forcing the brain to grow in the direction of any open sutures [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…While many craniosynostoses present with skull-base abnormalities and midface hypoplasia, CS is differentiated by a lack of hand or foot abnormalities and hypertelorism [ 3 ]. The neurological manifestations of CS may range from normal intelligence to moderate intellectual disability, secondary to the degree of intracranial volume reduction [ 2 , 3 ]. Early radiologic evaluation is essential not only for identifying osseous abnormalities but also to assess for ectodermal malformations such as Dandy-Walker syndrome or schizencephaly [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

“…The neurological manifestations of CS may range from normal intelligence to moderate intellectual disability, secondary to the degree of intracranial volume reduction [ 2 , 3 ]. Early radiologic evaluation is essential not only for identifying osseous abnormalities but also to assess for ectodermal malformations such as Dandy-Walker syndrome or schizencephaly [ 3 ]. Additionally, patients with CS are also at increased risk for elevated intracranial pressure, hearing defects, upper airway obstruction, and obstructive sleep apnea [ 3 , 5 ].…”

Section: Introductionmentioning

confidence: 99%

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Mysterious Bilateral Foot Pain in a Child With Crouzon Syndrome

Coombes¹,

Yeakle²,

Kwiatkowska³

et al. 2023

Cureus

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Crouzon syndrome (CS) is a rare autosomal dominant disorder that requires care from a multidisciplinary team and early surgical management to minimize complications. Despite the shared similarities across craniosynostoses, CS can be differentiated by the presence of normal bone development of the hands and feet and hypertelorism (large distance between the eyes). Other common features include midface hypoplasia, shallow orbits, ocular proptosis, and dental abnormalities including possible bifid uvula or Vshaped maxillary arch. In this report, we present a case of prolonged foot pain in a four-year and twomonth-old boy with CS; we also engage in a brief review of the literature. The patient's physical exam and laboratory work were unremarkable on the initial presentation. Radiographic films showed signs of potential demineralization of bone tissue. He was prescribed calcium and vitamin D supplementation with complete resolution of his symptoms at the three-month follow-up visit.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Mysterious Bilateral Foot Pain in a Child With Crouzon Syndrome

Coombes¹,

Yeakle²,

Kwiatkowska³

et al. 2023

Cureus

View full text Add to dashboard Cite

show abstract

“…Crouzon syndrome (CS), the most common craniosynostosis condition, is a rare genetic disorder with a documented prevalence of 16 per million births globally. It is an autosomal dominant condition linked to numerous fibroblast growth factor receptor 2 (FGFR2) mutations (4)(5)(6). FGFR2 has a signaling function in cranial sutures and plays a crucial role in limbs embryonic development (7).…”

Section: Introductionmentioning

confidence: 99%