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Lint: beare-stevenson-syndrome

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"The syndrome is characterised by 25:"

Line 5:43 · Use a hyphen-minus ('-') instead of an en-dash ('–').
Spacing
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"BSS is most often inherited in an autosomal dominant manner and is associated with pathogenic variants in the FGFR2 gene, most commonly missense mutations p.Tyr375Cys and p.Ser372Cys 3. FGFR2 encodes a fibroblast growth factor receptor involved in bone development, angiogenesis, and embryogenesis, explaining the combined skeletal and cutaneous manifestations 8."

Line 27:168 · 'p.T' should have one space.

"BSS is most often inherited in an autosomal dominant manner and is associated with pathogenic variants in the FGFR2 gene, most commonly missense mutations p.Tyr375Cys and p.Ser372Cys 3. FGFR2 encodes a fibroblast growth factor receptor involved in bone development, angiogenesis, and embryogenesis, explaining the combined skeletal and cutaneous manifestations 8."

Line 27:184 · 'p.S' should have one space.
Acronyms
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"BSS is most often inherited in an autosomal dominant manner and is associated with pathogenic variants in the FGFR2 gene, most commonly missense mutations p.Tyr375Cys and p.Ser372Cys 3. FGFR2 encodes a fibroblast growth factor receptor involved in bone development, angiogenesis, and embryogenesis, explaining the combined skeletal and cutaneous manifestations 8."

Line 27:4 · 'BSS' has no definition. Spell it out if it's unfamiliar to the audience.
Emphasis
warning

"BSS is most often inherited in an autosomal dominant manner and is associated with pathogenic variants in the FGFR2 gene, most commonly missense mutations p.Tyr375Cys and p.Ser372Cys 3. FGFR2 encodes a fibroblast growth factor receptor involved in bone development, angiogenesis, and embryogenesis, explaining the combined skeletal and cutaneous manifestations 8."

Line 27:114 · Italics should be used only in exceptional circumstances: '<em>FGFR2 </em>gene, most commonly missense mutations p.Tyr375Cys and p.Ser372Cys <sup>3</sup>. <em>FGFR2 </em>'

"white matter and corpus callosum abnormalities consistent with FGFR2-related disorders"

Line 48:71 · Italics should be used only in exceptional circumstances: '<em>FGFR2</em>'
List Caps
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"Crouzon Syndrome"

Line 57:11 · In general, we don't start a list item with a capital letter. Exceptions are proper nouns.
Headings Valid
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Expected headings

  • H1 Terminology
  • H1 Usage
  • H1 Epidemiology
  • H2 Risk factors
  • H2 Associations
  • H1 Clinical presentation
  • H2 Complications
  • H1 Diagnosis
  • H2 Diagnostic criteria
  • H2 Diagnostic clues
  • H1 Pathology
  • H2 Aetiology
  • H2 Location
  • H2 Classification
  • H2 Macroscopic appearance
  • H2 Microscopic appearance
  • H2 Immunophenotype
  • H2 Markers
  • H2 Genetics
  • H1 Radiographic features
  • H2 Plain radiograph
  • H2 Mammography
  • H2 Antenatal ultrasound
  • H2 Transoesophageal echocardiography
  • H2 Ultrasound
  • H2 CT
  • H3 Dual-energy CT
  • H2 Angiography (DSA)
  • H2 MRI
  • H2 CT/MRI
  • H2 Nuclear medicine
  • H3 PET-CT
  • H3 PET-MRI
  • H1 Radiology report
  • H1 Treatment and prognosis
  • H2 Complications
  • H1 History and etymology
  • H1 Differential diagnosis
  • H2 Clinical differential diagnosis
  • H1 Practical points
  • H1 See also

"Clinical presentation"

Line 4:1 · "Clinical presentation" should be H1, not H2.
Inline EG
suggestion

"posterior fossa anomalies (e.g. reduced vermis height, altered tentorial angle)"

Line 45:34 · Consider replacing a bracketed e.g. with an inline e.g. after a comma.