Progeria physical examination: Difference between revisions

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{{Progeria}}


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{{CMG}}; {{AE}} {{VKG}}


==Overview==
==Overview==
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
Common physical examination findings of [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) include skin changes, hair changes, eye problems and [[musculoskeletal]] abnormalities.
 
OR
 
Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
 
OR
 
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].


==Physical Examination==
==Physical Examination==
Physical examination of patients with [disease name] is usually normal.
OR
Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
OR
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
OR
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
===Appearance of the Patient===
===Appearance of the Patient===
*Patients with [disease name] usually appear [general appearance].  
*Patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) usually appear normal at birth.<ref name="pmid21251803">{{cite journal| author=Doubaj Y, Lamzouri A, Elalaoui SC, Laarabi FZ, Sefiani A| title=[Three cases of Hutchinson-Gilford progeria syndrome]. | journal=Arch Pediatr | year= 2011 | volume= 18 | issue= 2 | pages= 156-9 | pmid=21251803 | doi=10.1016/j.arcped.2010.11.014 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.Ffcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21251803  }}</ref>
*Onset of symptoms usally occurs around 6-12 months in patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]).


===Vital Signs===
===Vital Signs===


*High-grade / low-grade fever
*High [[blood pressure]] with normal [[pulse pressure]].<ref name="pmid182563943">{{cite journal| author=Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB et al.| title=Phenotype and course of Hutchinson-Gilford progeria syndrome. | journal=N Engl J Med | year= 2008 | volume= 358 | issue= 6 | pages= 592-604 | pmid=18256394 | doi=10.1056/NEJMoa0706898 | pmc=2940940 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18256394  }}</ref>
*[[Hypothermia]] / hyperthermia may be present
*[[Tachycardia]] with regular pulse or (ir)regularly irregular pulse
*[[Bradycardia]] with regular pulse or (ir)regularly irregular pulse
*Tachypnea / bradypnea
*Kussmal respirations may be present in _____ (advanced disease state)
*Weak/bounding pulse / pulsus alternans / paradoxical pulse / asymmetric pulse
*High/low blood pressure with normal pulse pressure / [[wide pulse pressure]] / [[narrow pulse pressure]]


===Skin===
===Skin===
* Skin examination of patients with [disease name] is usually normal.
OR
*[[Cyanosis]]
*[[Jaundice]]
* [[Pallor]]
* Bruises


<gallery widths="150px">
* Skin examination of patients with Hutchinson-Gilford progeria syndrome (HGPS)  shows the following:<ref name="pmid20301300">{{cite journal| author=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K et al.| title=GeneReviews® | journal= | year= 1993 | volume=  | issue=  | pages=  | pmid=20301300 | doi= | pmc= | url= }}</ref><ref name="pmid9606327">{{cite journal| author=Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF et al.| title=Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology. | journal=Arch Dermatol | year= 1998 | volume= 134 | issue= 5 | pages= 577-9 | pmid=9606327 | doi=10.1001/archderm.134.5.577 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9606327  }}</ref><ref name="pmid18256394">{{cite journal| author=Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB et al.| title=Phenotype and course of Hutchinson-Gilford progeria syndrome. | journal=N Engl J Med | year= 2008 | volume= 358 | issue= 6 | pages= 592-604 | pmid=18256394 | doi=10.1056/NEJMoa0706898 | pmc=2940940 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18256394  }}</ref>
** Skin atrophy
** Skin dryness
**Focal sclerotic and areas of laxity and outpouching of the skin
**Rigid and tense skin with erosions
**Intermittent hyperpigmentation along with hypopigmentation on the skin
**Patients have indurated, shiny, inelastic skin
**Aged-appearing skin due to the following:
***Loss of subcutaneous fat(most commonly on the hands and feet)


UploadedImage-01.jpg | Description {{dermref}}
===HEENT===
UploadedImage-02.jpg | Description {{dermref}}
* Abnormalities of the hair may include
 
**Hair loss
</gallery>
**Baldness


===HEENT===
*progressive eyelashes loss
* HEENT examination of patients with [disease name] is usually normal.
* Facial features are very characteristic in patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) which include:<ref name="pmid96063272">{{cite journal| author=Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF et al.| title=Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology. | journal=Arch Dermatol | year= 1998 | volume= 134 | issue= 5 | pages= 577-9 | pmid=9606327 | doi=10.1001/archderm.134.5.577 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9606327  }}</ref><ref name="pmid22460337">{{cite journal| author=Ullrich NJ, Silvera VM, Campbell SE, Gordon LB| title=Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome. | journal=AJNR Am J Neuroradiol | year= 2012 | volume= 33 | issue= 8 | pages= 1512-8 | pmid=22460337 | doi=10.3174/ajnr.A3088 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22460337  }}</ref><ref name="pmid22011502">{{cite journal| author=Chandravanshi SL, Rawat AK, Dwivedi PC, Choudhary P| title=Ocular manifestations in the Hutchinson-Gilford progeria syndrome. | journal=Indian J Ophthalmol | year= 2011 | volume= 59 | issue= 6 | pages= 509-12 | pmid=22011502 | doi=10.4103/0301-4738.86327 | pmc=3214428 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22011502  }}</ref>
OR
**Circumoral cyanosis with Thin lips
* Abnormalities of the head/hair may include ___
**Mouth in O position
* Evidence of trauma
**Prominent scalp veins
* Icteric sclera
**Prominent eyes
* [[Nystagmus]]
**Fixed facial expressions
* Extra-ocular movements may be abnormal
**Beaked nose
*Pupils non-reactive to light / non-reactive to accommodation / non-reactive to neither light nor accommodation
**pseudo hydrocephalus
*Ophthalmoscopic exam may be abnormal with findings of ___
**Micrognathia(undersized jaw)
* Hearing acuity may be reduced
**Retrognathia(abnormal posterior positioning of the maxilla or mandible)
*[[Weber test]] may be abnormal (Note: A positive Weber test is considered a normal finding / A negative Weber test is considered an abnormal finding. To avoid confusion, you may write "abnormal Weber test".)
**Protruding ears with absent lobes
*[[Rinne test]] may be positive (Note: A positive Rinne test is considered a normal finding / A negative Rinne test is considered an abnormal finding. To avoid confusion, you may write "abnormal Rinne test".)
**Frontal and parietal bossing
* [[Exudate]] from the ear canal
**Large anterior fontanel
* Tenderness upon palpation of the ear pinnae/tragus (anterior to ear canal)
*Inflamed nares / congested nares
* [[Purulent]] exudate from the nares
* Facial tenderness
* Erythematous throat with/without tonsillar swelling, exudates, and/or petechiae


* Possible exposure keratopathy
* Nocturnal lagophthalmos can be noticed in some patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]])
*Blepharophimosis<ref name="pmid96063273">{{cite journal| author=Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF et al.| title=Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology. | journal=Arch Dermatol | year= 1998 | volume= 134 | issue= 5 | pages= 577-9 | pmid=9606327 | doi=10.1001/archderm.134.5.577 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9606327  }}</ref>
*Eruption of secondary incisors lingually and palatally in the mandible and maxillary area is noticed in patients with HGPS<ref name="pmid17908770">{{cite journal| author=Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, Berns SD et al.| title=Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development. | journal=Pediatrics | year= 2007 | volume= 120 | issue= 4 | pages= 824-33 | pmid=17908770 | doi=10.1542/peds.2007-1357 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17908770  }}</ref>
*Dental crowding and dental caries
[[File:Hutchinson-Gilford progeria.jpg|thumb|Hutchinson-Gilford progeria male patient (A) showing disproportionately small face in comparison to the head, micrognathia, prominent eyes, both upper eyelids’ retraction, beaked nose, thin lips. (B) Prominent scalp veins, alopecia with grey and sparse hairs, and protruding ears with absent earlobe. Case courtesy by Dr. Shivcharan Lal Chandravanshi et al.<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214428/|title=Ocular manifestations in the Hutchinson-Gilford progeria syndrome|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]<br />
[[File:Dental crowding and dental caries.jpg|alt=Dental crowding and dental caries|center|thumb|A) Upper jaw dental crowding and dental caries (B) Lower jaw dental crowding and dental caries. Case courtesy by Shivcharan L Chandravanshi<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214428/|title=Ocular manifestations in the Hutchinson-Gilford progeria syndrome|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]
<br />
===Neck===
===Neck===
* Neck examination of patients with [disease name] is usually normal.
* Neck examination of patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) is usually normal.
OR
*[[Jugular venous distension]]
*[[Carotid bruits]] may be auscultated unilaterally/bilaterally using the bell/diaphragm of the otoscope
*[[Lymphadenopathy]] (describe location, size, tenderness, mobility, and symmetry)
*[[Thyromegaly]] / thyroid nodules
*[[Hepatojugular reflux]]


===Lungs===
===Lungs===
* Pulmonary examination of patients with [disease name] is usually normal.
* Pulmonary examination of patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) is usually normal.
OR
* Asymmetric chest expansion OR decreased chest expansion
*Lungs are hyporesonant OR hyperresonant
*Fine/coarse [[crackles]] upon auscultation of the lung bases/apices unilaterally/bilaterally
*Rhonchi
*Vesicular breath sounds OR distant breath sounds
*Expiratory wheezing OR inspiratory wheezing with normal OR delayed expiratory phase
*[[Wheezing]] may be present
*[[Egophony]] present/absent
*[[Bronchophony]] present/absent
*Normal/reduced [[tactile fremitus]]


===Heart===
===Heart===
* Cardiovascular examination of patients with [disease name] is usually normal.
* Cardiovascular examination of patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) is usually shows dextrocardia.
OR
*Chest tenderness upon palpation
*PMI within 2 cm of the sternum  (PMI) / Displaced point of maximal impulse (PMI) suggestive of ____
*[[Heave]] / [[thrill]]
*[[Friction rub]]
*[[Heart sounds#First heart tone S1, the "lub"(components M1 and T1)|S1]]
*[[Heart sounds#Second heart tone S2 the "dub"(components A2 and P2)|S2]]
*[[Heart sounds#Third heart sound S3|S3]]
*[[Heart sounds#Fourth heart sound S4|S4]]
*[[Heart sounds#Summation Gallop|Gallops]]
*A high/low grade early/late [[systolic murmur]] / [[diastolic murmur]] best heard at the base/apex/(specific valve region) may be heard using the bell/diaphgram of the stethoscope


===Abdomen===
===Abdomen===
* Abdominal examination of patients with [disease name] is usually normal.
* Abdominal examination of patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) is usually normal.
OR
*[[Abdominal distension]]  
*[[Abdominal tenderness]] in the right/left upper/lower abdominal quadrant
*[[Rebound tenderness]] (positive Blumberg sign)
*A palpable abdominal mass in the right/left upper/lower abdominal quadrant
*Guarding may be present
*[[Hepatomegaly]] / [[splenomegaly]] / [[hepatosplenomegaly]]
*Additional findings, such as obturator test, psoas test, McBurney point test, Murphy test


===Back===
===Back===
* Back examination of patients with [disease name] is usually normal.
* Back examination of patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) is usually normal.
OR
*Point tenderness over __ vertebrae (e.g. L3-L4)
*Sacral edema
*Costovertebral angle tenderness bilaterally/unilaterally
*Buffalo hump


===Genitourinary===
===Genitourinary===
* Genitourinary examination of patients with [disease name] is usually normal.
* Genitourinary examination of patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) is usually normal.
OR
*A pelvic/adnexal mass may be palpated
*Inflamed mucosa
*Clear/(color), foul-smelling/odorless penile/vaginal discharge


===Neuromuscular===
===Neuromuscular===
* Neuromuscular examination of patients with [disease name] is usually normal.
* Neuromuscular examination of patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) is usually normal.
OR
*Patient is usually oriented to persons, place, and time
* Altered mental status
* Glasgow coma scale is ___ / 15
* Clonus may be present
* Hyperreflexia / hyporeflexia / areflexia
* Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
* Muscle rigidity
* Proximal/distal muscle weakness unilaterally/bilaterally
* ____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
*Unilateral/bilateral upper/lower extremity weakness
*Unilateral/bilateral sensory loss in the upper/lower extremity
*Positive straight leg raise test
*Abnormal gait (describe gait: e.g. ataxic (cerebellar) gait / steppage gait / waddling gait / choeiform gait / Parkinsonian gait / sensory gait)
*Positive/negative Trendelenburg sign
*Unilateral/bilateral tremor (describe tremor, e.g. at rest, pill-rolling)
*Normal finger-to-nose test / Dysmetria
*Absent/present dysdiadochokinesia (palm tapping test)


===Extremities===
===Extremities===
* Extremities examination of patients with [disease name] is usually normal.
* Musculoskeletal abnormalities which include:<ref name="pmid182563942">Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB et al. (2008) [https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&retmode=ref&cmd=prlinks&id=18256394 Phenotype and course of Hutchinson-Gilford progeria syndrome.] ''N Engl J Med'' 358 (6):592-604. [http://dx.doi.org/10.1056/NEJMoa0706898 DOI:10.1056/NEJMoa0706898] PMID: [https://pubmed.gov/18256394 18256394]</ref><ref name="pmid96063274">{{cite journal| author=Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF et al.| title=Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology. | journal=Arch Dermatol | year= 1998 | volume= 134 | issue= 5 | pages= 577-9 | pmid=9606327 | doi=10.1001/archderm.134.5.577 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9606327  }}</ref><ref name="pmid179087702">{{cite journal| author=Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, Berns SD et al.| title=Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development. | journal=Pediatrics | year= 2007 | volume= 120 | issue= 4 | pages= 824-33 | pmid=17908770 | doi=10.1542/peds.2007-1357 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17908770  }}</ref>
OR
**Thin limbs with prominent joints
*[[Clubbing]]
**Coxa valga
*[[Cyanosis]]
**Measured reductions in joint range of motion
*Pitting/non-pitting [[edema]] of the upper/lower extremities
**Osteoarthritis
*Muscle atrophy
**Joint contractures
*Fasciculations in the upper/lower extremity
**Pyriform (pear-shaped) thorax
**Bilateral hip dislocations
**Avascular necrosis of the femoral head


==References==
==References==

Latest revision as of 14:00, 12 August 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Overview

Common physical examination findings of Hutchinson-Gilford progeria syndrome (HGPS) include skin changes, hair changes, eye problems and musculoskeletal abnormalities.

Physical Examination

Appearance of the Patient

Vital Signs

Skin

  • Skin examination of patients with Hutchinson-Gilford progeria syndrome (HGPS) shows the following:[3][4][5]
    • Skin atrophy
    • Skin dryness
    • Focal sclerotic and areas of laxity and outpouching of the skin
    • Rigid and tense skin with erosions
    • Intermittent hyperpigmentation along with hypopigmentation on the skin
    • Patients have indurated, shiny, inelastic skin
    • Aged-appearing skin due to the following:
      • Loss of subcutaneous fat(most commonly on the hands and feet)

HEENT

  • Abnormalities of the hair may include
    • Hair loss
    • Baldness
  • progressive eyelashes loss
  • Facial features are very characteristic in patients with Hutchinson-Gilford progeria syndrome (HGPS) which include:[6][7][8]
    • Circumoral cyanosis with Thin lips
    • Mouth in O position
    • Prominent scalp veins
    • Prominent eyes
    • Fixed facial expressions
    • Beaked nose
    • pseudo hydrocephalus
    • Micrognathia(undersized jaw)
    • Retrognathia(abnormal posterior positioning of the maxilla or mandible)
    • Protruding ears with absent lobes
    • Frontal and parietal bossing
    • Large anterior fontanel
  • Possible exposure keratopathy
  • Nocturnal lagophthalmos can be noticed in some patients with Hutchinson-Gilford progeria syndrome (HGPS)
  • Blepharophimosis[9]
  • Eruption of secondary incisors lingually and palatally in the mandible and maxillary area is noticed in patients with HGPS[10]
  • Dental crowding and dental caries
Hutchinson-Gilford progeria male patient (A) showing disproportionately small face in comparison to the head, micrognathia, prominent eyes, both upper eyelids’ retraction, beaked nose, thin lips. (B) Prominent scalp veins, alopecia with grey and sparse hairs, and protruding ears with absent earlobe. Case courtesy by Dr. Shivcharan Lal Chandravanshi et al.[11]


Dental crowding and dental caries
A) Upper jaw dental crowding and dental caries (B) Lower jaw dental crowding and dental caries. Case courtesy by Shivcharan L Chandravanshi[12]


Neck

Lungs

Heart

Abdomen

Back

Genitourinary

Neuromuscular

Extremities

  • Musculoskeletal abnormalities which include:[13][14][15]
    • Thin limbs with prominent joints
    • Coxa valga
    • Measured reductions in joint range of motion
    • Osteoarthritis
    • Joint contractures
    • Pyriform (pear-shaped) thorax
    • Bilateral hip dislocations
    • Avascular necrosis of the femoral head

References

  1. ↑ Doubaj Y, Lamzouri A, Elalaoui SC, Laarabi FZ, Sefiani A (2011). "[Three cases of Hutchinson-Gilford progeria syndrome]". Arch Pediatr. 18 (2): 156–9. doi:10.1016/j.arcped.2010.11.014. PMID 21251803.
  2. ↑ Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB; et al. (2008). "Phenotype and course of Hutchinson-Gilford progeria syndrome". N Engl J Med. 358 (6): 592–604. doi:10.1056/NEJMoa0706898. PMC 2940940. PMID 18256394.
  3. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). "GeneReviews®". PMID 20301300.
  4. ↑ Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF; et al. (1998). "Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology". Arch Dermatol. 134 (5): 577–9. doi:10.1001/archderm.134.5.577. PMID 9606327.
  5. ↑ Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB; et al. (2008). "Phenotype and course of Hutchinson-Gilford progeria syndrome". N Engl J Med. 358 (6): 592–604. doi:10.1056/NEJMoa0706898. PMC 2940940. PMID 18256394.
  6. ↑ Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF; et al. (1998). "Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology". Arch Dermatol. 134 (5): 577–9. doi:10.1001/archderm.134.5.577. PMID 9606327.
  7. ↑ Ullrich NJ, Silvera VM, Campbell SE, Gordon LB (2012). "Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome". AJNR Am J Neuroradiol. 33 (8): 1512–8. doi:10.3174/ajnr.A3088. PMID 22460337.
  8. ↑ Chandravanshi SL, Rawat AK, Dwivedi PC, Choudhary P (2011). "Ocular manifestations in the Hutchinson-Gilford progeria syndrome". Indian J Ophthalmol. 59 (6): 509–12. doi:10.4103/0301-4738.86327. PMC 3214428. PMID 22011502.
  9. ↑ Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF; et al. (1998). "Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology". Arch Dermatol. 134 (5): 577–9. doi:10.1001/archderm.134.5.577. PMID 9606327.
  10. ↑ Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, Berns SD; et al. (2007). "Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development". Pediatrics. 120 (4): 824–33. doi:10.1542/peds.2007-1357. PMID 17908770.
  11. ↑ "Ocular manifestations in the Hutchinson-Gilford progeria syndrome".
  12. ↑ "Ocular manifestations in the Hutchinson-Gilford progeria syndrome".
  13. ↑ Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB et al. (2008) Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med 358 (6):592-604. DOI:10.1056/NEJMoa0706898 PMID: 18256394
  14. ↑ Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF; et al. (1998). "Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology". Arch Dermatol. 134 (5): 577–9. doi:10.1001/archderm.134.5.577. PMID 9606327.
  15. ↑ Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, Berns SD; et al. (2007). "Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development". Pediatrics. 120 (4): 824–33. doi:10.1542/peds.2007-1357. PMID 17908770.

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