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Kirner's deformity

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Kirner's deformity
Other namesDystelephangy, Congenital bilateral metadiaphyseal acrodysplasia of the little finger[1]
This trait is often hereditary, and is thought to be inherited in an autosomal dominant manner with reduced penetrance
SpecialtyMedical genetics
SymptomsRadial and volar curvature of the distal phalange of the fifth finger.
ComplicationsNone
TypesThere are congenital, early-onset, and acquired forms.
CausesAutosomal dominant inheritance
PreventionNone
TreatmentUsually, none is required, surgery is done due to cosmetic reasons
PrognosisGood
FrequencyUncommon, about 1 in 400-600 people are thought to have this deformity
DeathsDeaths are not involved with the deformity, since it isn't deadly.

Kirner's deformity, also known as dystelephangy, is an uncommon genetic hand malformation which is characterized by a radial and volar curvature of the distal phalange of the fifth (pinky) finger. It is merely cosmetic and doesn't affect hand function.[2]

Etymology

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This condition is considered to be a type of isolated brachydactyly.[3]

A.R. Thomas et al. described it as a "dystrophy of the fifth finger".[4]

History

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This difference was first discovered in 1927 by Kirner et al., when he described a 13-year-old girl with the characteristic radial and volar curvature of the fifth finger's distal phalanx bone.[5]

Signs and symptoms

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This anomaly is characterized by the painless curvature and "bulbing" of the distal end of the little finger.[6] The time of onset varies among people, but the two most common ages of onset are birth and adolescence, although there can be cases where one is already born with a Kirner's deformity that worsens as one grows older (progressive).[7]

Rarely, multiple fingers (which may or may not include the little finger) may be affected with Kirner's deformity; this is known as polytopic dystelephalangy, and cases like this typically have a strong genetic link.[8]

Other isolated congenital deformities of the hand can occur alongside this deformity; one such instance is the family described by Erduran et al., which presented both camptodactyly and Kirner's deformity.[9]

Radiological findings

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The following list comprises the radiological findings associated with Kirner's deformity that have been described in medical literature:[7][10][11]

  • Diaphyseal shortening
  • Diaphyseal curvature
  • Epiphyseal curvature
  • Sclerosing of the diaphyses
  • Agenesis of the little finger's flexor digitorum superficialis tendon.
  • Abnormal cartilage placement of the diaphyses and the flexor tendon
  • Radiolucent nidus in the little finger's distal tuft.
  • L-shaped physis

Causes

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This deformity is caused by a widening of the epiphyseal plate of the fifth finger's distal phalange.[12] Another proposed cause involves the abnormal insertion of the flexor digitorum profundus in the volar area of the fifth finger's distal phalange.[13] It is thought to be an autosomal dominant trait with reduced penetrance.[14]

Diagnosis

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This condition can be diagnosed by physical examination and radiographic imaging, including X-rays, magnetic resonance imaging, etc.[citation needed]

Differential diagnosis

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This condition can be confused with other malformations (congenital and acquired) of the hand, these include:

Epidemiology

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This hand difference is estimated to be present in 0.15%-0.25% of the world population.[21]

It is more common in women than in men;[12] physical examination performed on people from a selected region in southern England by David and Burwood et al. found 18 individuals from 9 families with Kirner's deformity. Of these 18 individuals, 6 were men and 12 were women.[22]

It has a higher incidence rate among the Japanese.[23]

Treatment

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A handful of treatment methods resulting in successful improvement of Kirner's deformity have been described, these include:

Associations

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The following subsections comprise Kirner deformity's non-syndromic and syndromic associations:[16][7][29]

Non-syndromic

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Syndromic

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These are the syndromes associated with this malformation

See also

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References

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  1. ^ "Dystelephalangy". 16 June 2022.
  2. ^ Gujjar, Rakesh; Khanna, Vikram; Kollu, Raja; Vaishya, Raju (2016-09-01). "Kirner's deformity – A case report". Apollo Medicine. 13 (3): 187–188. doi:10.1016/j.apme.2015.07.002.
  3. ^ Temtamy, Samia A; Aglan, Mona S (2008-06-13). "Brachydactyly". Orphanet Journal of Rare Diseases. 3: 15. doi:10.1186/1750-1172-3-15. PMC 2441618. PMID 18554391.
  4. ^ Thomas, A. R. (1936). "A New Dystrophy of the Fifth Finger". The Lancet. 228 (5890): 163–164. doi:10.1016/S0140-6736(00)81788-2. S2CID 196407714.
  5. ^ Rasmussen, Lars Bjørn (1981-01-01). "Kirner's Deformity: Juvenile Spontaneous Incurving of the Terminal Phalanx of the Fifth Finger". Acta Orthopaedica Scandinavica. 52 (1): 35–37. doi:10.3109/17453678108991755. PMID 7211313.
  6. ^ "Dystelephalangy - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-09-01.
  7. ^ a b c Sargent, Michael. "Kirner deformity | Radiology Reference Article | Radiopaedia.org". Radiopaedia. Retrieved 2022-09-01.
  8. ^ Sugiura, Y. (1989-07-01). "Polytopic dystelephalangy of the fingers". Pediatric Radiology. 19 (6): 493–495. doi:10.1007/BF02387670. PMID 2771501. S2CID 26382843.
  9. ^ Erduran, Mehmet; Altinisik, Julide; Meric, Gokhan; Ulusal, Ali Engin; Akseki, Devrim (2013). "Camptodactyly and Kirner's Deformity in one Family". Balıkesır Health Sciences Journal. 2 (1): 36–39. doi:10.5505/bsbd.2013.03522.
  10. ^ Satake, Hiroshi; Ogino, Toshihiko; Eto, Jun; Maruyama, Masahiro; Watanabe, Tadayoshi; Takagi, Michiaki (June 2013). "Radiographic features of Kirner's deformity". Congenital Anomalies. 53 (2): 78–82. doi:10.1111/cga.12010. PMID 23751041. S2CID 5379782.
  11. ^ Fairbank, S. M.; Rozen, W. M.; Coombs, C. J. (2014-09-30). "The pathogenesis of Kirner's deformity: A clinical, radiological and histological study". Journal of Hand Surgery (European Volume). 40 (6): 633–637. doi:10.1177/1753193414551911. PMID 25274771. S2CID 1811920.
  12. ^ a b Adeb, Melkamu; Hayashi, Daichi; Kumar, Yogesh (2016-10-21). "Kirner's deformity of the fifth finger: a case report". BMC Musculoskeletal Disorders. 17 (1): 440. doi:10.1186/s12891-016-1300-8. PMC 5073483. PMID 27769216.
  13. ^ Lee, Jaejoon; Ahn, Joong Kyong; Choi, Sang-Hee; Koh, Eun-Mi; Cha, Hoon-Suk (September 2010). "MRI findings in Kirner deformity: normal insertion of the flexor digitorum profundus tendon without soft-tissue enhancement". Pediatric Radiology. 40 (9): 1572–1575. doi:10.1007/s00247-010-1628-4. PMID 20336287. S2CID 29662827.
  14. ^ Tianxiao, Ma; Wang, Dongyue; Song, Lihua (2020-09-25). "Kirner's deformity of the fifth finger: A case report". Medicine. 99 (39): e22294. doi:10.1097/MD.0000000000022294. PMC 7523806. PMID 32991433.
  15. ^ Dubrana, F.; Dartoy, C.; Stindel, E.; Fenoll, B.; Le Nen, D.; Lefevre, C. (1995). "[Kirner's deformity. 4 case reports and review of the literature]". Annales de Chirurgie de la Main et du Membre Supérieur. 14 (1): 33–37. doi:10.1016/s0753-9053(05)80532-0. PMID 7535545.
  16. ^ a b c d e Viswanathan, Vijay; Mhapankar, Abhijit V. (2018). "Kirner's Syndrome: Displaced Bone – Misplaced Diagnosis" (PDF). Indian Pediatrics. 55 (7): 625–. doi:10.1007/s13312-018-1314-4. PMID 30129560. S2CID 52046544.
  17. ^ Dubrana, F.; Dartoy, C.; Stindel, E.; Fenoll, B.; Le Nen, D.; Lefevre, C. (1995). "[Kirner's deformity. 4 case reports and review of the literature]". Annales de Chirurgie de la Main et du Membre Supérieur. 14 (1): 33–37. doi:10.1016/s0753-9053(05)80532-0. PMID 7535545.
  18. ^ Walsh, Catherine; Sills, Matthew; Markey, Gerard (2018-11-01). "An 11-year-old with mallet finger". Emergency Medicine Journal. 35 (11): 679–680. doi:10.1136/emermed-2017-207361. PMID 30337418. S2CID 53013535.
  19. ^ Khalid, Saifullah; Khalid, Mohd; Zaheer, Samreen; Ahmad, Ibne; Ullah, Ekram (2012). "Kirner's Deformity Misdiagnosed as Fracture: A Case Report". Oman Medical Journal. 27 (3): 237–238. doi:10.5001/omj.2012.53. PMC 3394366. PMID 22811775.
  20. ^ "Entry - %128000 - DYSTELEPHALANGY - OMIM". omim.org. Retrieved 2022-09-02.
  21. ^ Tianxiao, Ma; Wang, Dongyue; Song, Lihua (2020-09-25). "Kirner's deformity of the fifth finger: A case report". Medicine. 99 (39): e22294. doi:10.1097/MD.0000000000022294. PMC 7523806. PMID 32991433.
  22. ^ David, T. J.; Burwood, R. L. (1972-12-01). "The nature and inheritance of Kirner's deformity". Journal of Medical Genetics. 9 (4): 430–433. doi:10.1136/jmg.9.4.430. PMC 1469067. PMID 4646550.
  23. ^ Khalid, Saifullah; Khalid, Mohd; Zaheer, Samreen; Ahmad, Ibne; Ullah, Ekram (May 2012). "Kirner's Deformity Misdiagnosed as Fracture: A Case Report". Oman Medical Journal. 27 (3): 237–238. doi:10.5001/omj.2012.53. PMC 3394366. PMID 22811775.
  24. ^ Mantero, R. (1982). "[Kirner's disease: surgical treatment]". Annales de Chirurgie de la Main. 1 (1): 88–91. doi:10.1016/s0753-9053(82)80049-5. PMID 9303047.
  25. ^ Freiberg, A.; Forrest, C. (January 1986). "Kirner's deformity: A review of the literature and case presentation". Journal of Hand Surgery. 11 (1): 28–32. doi:10.1016/S0363-5023(86)80095-8. PMID 3944436.
  26. ^ Gamo, Kazushige; Kuriyama, Kohji; Uesugi, Ayako; Nakase, Takanobu; Hamada, Masayuki; Kawai, Hideo (2014). "Percutaneous corrective osteotomy for Kirner's deformity". Journal of Pediatric Orthopaedics B. 23 (3): 277–281. doi:10.1097/BPB.0000000000000042. PMID 24590256.
  27. ^ a b c "Kirner deformity - General Practice notebook". gpnotebook.com. Retrieved 2022-09-01.
  28. ^ Horii, Emiko; Otsuka, Junko; Koh, Shukuki (2018-02-26). "Surgical Treatment for Kirner's Deformity—Single Osteotomy through a Palmar Approach". Plastic and Reconstructive Surgery Global Open. 6 (2): e1683. doi:10.1097/GOX.0000000000001683. PMC 5865914. PMID 29616176.
  29. ^ Lee, Fred A. (1968-12-01). "Generalized Overconstriction of Long Bones and Unilateral Kirner's Deformity in a deLange Dwarf". American Journal of Diseases of Children. 116 (6): 599–603. doi:10.1001/archpedi.1968.02100020603005. PMID 5697191.
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