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Abnormality of the posterior hairline

MedGen UID:
868215
•Concept ID:
C4022607
•
Anatomical Abnormality
Synonym: Abnormality of hairline at back of head
 
HPO: HP:0030141

Definition

An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the posterior hairline

Professional guidelines

PubMed

Turner syndrome mosaicism: Challenges in identification and management in primary care.
Bryant PH, Jacoby D, Bunch M, Speck PM
J Am Assoc Nurse Pract 2021 Oct 7;34(2):400-404. doi: 10.1097/JXX.0000000000000643. PMID: 34628444

Recent clinical studies

Etiology

Above-The-Hairline Suboccipital Transverse Approach for the Treatment of Chiari I Malformation.
Naylor RM, Rotter J, Proctor MR, Bite U, Ahn ES
Oper Neurosurg (Hagerstown) 2023 May 1;24(5):542-547. Epub 2023 Jan 19 doi: 10.1227/ons.0000000000000619. PMID: 36716002
Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study.
Nunes MR, Pereira TG, Correia HVD, Canabarro ST, Vanz AP, Zen PRG, Rosa RFM
Sao Paulo Med J 2021 Aug-Sep;139(5):435-442. doi: 10.1590/1516-3180.2020.0470.R2.110321. PMID: 34378742Free PMC Article
Turner syndrome in diverse populations.
Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong MK, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, de Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M
Am J Med Genet A 2020 Feb;182(2):303-313. Epub 2019 Dec 19 doi: 10.1002/ajmg.a.61461. PMID: 31854143Free PMC Article
The Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients.
Gruber J, Saleh A, Bakhsh W, Rubery PT, Mesfin A
Spine Deform 2018 Jul-Aug;6(4):448-453. doi: 10.1016/j.jspd.2017.12.002. PMID: 29886918
Cervical characteristics of Noonan syndrome.
Miyamoto JJ, Yabunaka T, Moriyama K
Eur J Orthod 2014 Apr;36(2):226-32. Epub 2013 May 9 doi: 10.1093/ejo/cjt019. PMID: 23660838

Diagnosis

Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study.
Nunes MR, Pereira TG, Correia HVD, Canabarro ST, Vanz AP, Zen PRG, Rosa RFM
Sao Paulo Med J 2021 Aug-Sep;139(5):435-442. doi: 10.1590/1516-3180.2020.0470.R2.110321. PMID: 34378742Free PMC Article
HIST1H1E syndrome with type 2 diabetes.
Ahmed MSO, Rafey M, McDonnell T, Smith D
BMJ Case Rep 2021 Jul 21;14(7) doi: 10.1136/bcr-2021-241907. PMID: 34290007Free PMC Article
Turner syndrome in diverse populations.
Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong MK, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, de Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M
Am J Med Genet A 2020 Feb;182(2):303-313. Epub 2019 Dec 19 doi: 10.1002/ajmg.a.61461. PMID: 31854143Free PMC Article
The Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients.
Gruber J, Saleh A, Bakhsh W, Rubery PT, Mesfin A
Spine Deform 2018 Jul-Aug;6(4):448-453. doi: 10.1016/j.jspd.2017.12.002. PMID: 29886918
Klippel-Feil syndrome.
McBride WZ
Am Fam Physician 1992 Feb;45(2):633-5. PMID: 1739048

Therapy

A case of Klippel-Feil and Turner syndromes.
Park JH, Tai K, Sato Y, Nishiyama A, Shin JW
Pediatr Dent 2012 Mar-Apr;34(2):e35-9. PMID: 22583876
A pterion keyhole approach for the treatment of anterior circulation aneurysms.
Cheng WY, Lee HT, Sun MH, Shen CC
Minim Invasive Neurosurg 2006 Oct;49(5):257-62. doi: 10.1055/s-2006-954575. PMID: 17163337
Case report: Klippel-Feil syndrome with coexistent hypoparathyroidism.
Bhandari S, Farr MJ
Am J Med Sci 1996 Apr;311(4):174-7. doi: 10.1097/00000441-199604000-00004. PMID: 8602646
Cortical bone measurements in Turner's syndrome.
Park E
Am J Phys Anthropol 1977 May;46(3):455-61. doi: 10.1002/ajpa.1330460311. PMID: 193403

Prognosis

Klippel-Feil Syndrome Associated with Renal and Cardiac Anomalies in an Infant: A Case Report.
Yadav D, Bhattarai A, Bhandari P, Danai A, Singh UK
JNMA J Nepal Med Assoc 2023 Oct 1;61(266):819-821. doi: 10.31729/jnma.8303. PMID: 38289771Free PMC Article
Repeated anesthetic management for a patient with Klippel-Feil syndrome.
Hase Y, Kamekura N, Fujisawa T, Fukushima K
Anesth Prog 2014 Fall;61(3):103-6. doi: 10.2344/0003-3006-61.3.103. PMID: 25191983Free PMC Article
Modified Z-plasty repair of webbed neck deformity seen in Turner and Klippel-Feil syndrome.
Hikade KR, Bitar GJ, Edgerton MT, Morgan RF
Cleft Palate Craniofac J 2002 May;39(3):261-6. doi: 10.1597/1545-1569_2002_039_0261_mzprow_2.0.co_2. PMID: 12019001
A new operative method of correcting cryptotia using large Z-plasty.
Yotsuyanagi T, Yamashita K, Shinmyo Y, Yokoi K, Sawada Y
Br J Plast Surg 2001 Jan;54(1):20-4. doi: 10.1054/bjps.2000.3463. PMID: 11121312
Klippel-Feil syndrome.
McBride WZ
Am Fam Physician 1992 Feb;45(2):633-5. PMID: 1739048

Clinical prediction guides

The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report.
Mousavi S, Amiri B, Beigi S, Farzaneh M
J Med Case Rep 2021 Feb 18;15(1):79. doi: 10.1186/s13256-021-02673-0. PMID: 33596986Free PMC Article
Bilateral Multilevel Cervical Rib and Bilateral Omovertebra in Klippel-Feil Syndrome.
Satış S, Alparslan N, Tuna M, Dere O, Yetişgin A
World Neurosurg 2020 Apr;136:62-65. Epub 2020 Jan 10 doi: 10.1016/j.wneu.2020.01.010. PMID: 31931249
Repeated anesthetic management for a patient with Klippel-Feil syndrome.
Hase Y, Kamekura N, Fujisawa T, Fukushima K
Anesth Prog 2014 Fall;61(3):103-6. doi: 10.2344/0003-3006-61.3.103. PMID: 25191983Free PMC Article
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.
Mohamed JY, Faqeih E, Alsiddiky A, Alshammari MJ, Ibrahim NA, Alkuraya FS
Am J Hum Genet 2013 Jan 10;92(1):157-61. Epub 2013 Jan 3 doi: 10.1016/j.ajhg.2012.11.016. PMID: 23290072Free PMC Article
Brief clinical report: duplication of distal 17q: report of an observation.
Naccache NF, Vianna-Morgante AM, Richieri-Costa A
Am J Med Genet 1984 Mar;17(3):633-9. doi: 10.1002/ajmg.1320170313. PMID: 6711615

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