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Abnormal femoral neck morphology

MedGen UID:
871148
Concept ID:
C4025621
Anatomical Abnormality
Synonyms: Abnormal neck of thigh bone; Abnormality of the femoral neck
 
HPO: HP:0003367

Definition

An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). [from HPO]

Conditions with this feature

Leri-Weill dyschondrosteosis
MedGen UID:
75562
Concept ID:
C0265309
Disease or Syndrome
The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the short stature homeobox-containing gene (SHOX), ranges from Leri-Weill dyschondrosteosis (LWD) at the severe end of the spectrum to nonspecific short stature at the mild end of the spectrum. In adults with SHOX deficiency, the proportion of LWD versus short stature without features of LWD is not well defined. In LWD the classic clinical triad is short stature, mesomelia, and Madelung deformity. Mesomelia, in which the middle portion of a limb is shortened in relation to the proximal portion, can be evident first in school-aged children and increases with age in frequency and severity. Madelung deformity (abnormal alignment of the radius, ulna, and carpal bones at the wrist) typically develops in mid-to-late childhood and is more common and severe in females. The phenotype of short stature caused by SHOX deficiency in the absence of mesomelia and Madelung deformity (called SHOX-deficient short stature in this GeneReview) is highly variable, even within the same family.

Professional guidelines

PubMed

Roberts DW, Saglam Y, De La Rocha A, Frasquillo BN, Tulchin-Francis K, Kim HKW
J Pediatr Orthop 2018 Apr;38(4):193-201. doi: 10.1097/BPO.0000000000000782. PMID: 27261966
Cooper RJ, Mengoni M, Groves D, Williams S, Bankes MJK, Robinson P, Jones AC
Int J Numer Method Biomed Eng 2017 Nov;33(11) Epub 2017 Apr 5 doi: 10.1002/cnm.2867. PMID: 28112875Free PMC Article
Macfarlane RJ, Haddad FS
Ann R Coll Surg Engl 2010 Jul;92(5):363-7. doi: 10.1308/003588410X12699663903791. PMID: 20626968Free PMC Article

Recent clinical studies

Etiology

Rego P, Mascarenhas V, Mafra I, Oliveira F, Pinto P, Ganz R
Int Orthop 2021 Jan;45(1):83-94. Epub 2020 Sep 30 doi: 10.1007/s00264-020-04822-4. PMID: 32997157
Goronzy J, Franken L, Hartmann A, Thielemann F, Blum S, Günther KP, Nowotny J, Postler A
BMC Musculoskelet Disord 2020 Dec 26;21(1):846. doi: 10.1186/s12891-020-03878-y. PMID: 33357245Free PMC Article
Blankstein M, Lentine B, Nelms NJ
J Am Acad Orthop Surg 2020 Jul 15;28(14):e586-e594. doi: 10.5435/JAAOS-D-19-00604. PMID: 32692094
Yang P, Fan H, Wang X, Xu S, Yang L, Chen G
Medicine (Baltimore) 2020 Feb;99(6):e19068. doi: 10.1097/MD.0000000000019068. PMID: 32028429Free PMC Article
Melbouci M, Mason RW, Suzuki Y, Fukao T, Orii T, Tomatsu S
Mol Genet Metab 2018 May;124(1):1-10. Epub 2018 Mar 16 doi: 10.1016/j.ymgme.2018.03.004. PMID: 29627275Free PMC Article

Diagnosis

Goldstein RY, Kaye ID, Slover J, Feldman D
Bull Hosp Jt Dis (2013) 2014;72(1):28-42. PMID: 25150325
Dietrich TJ, Dora C, Pfirrmann CW
Semin Musculoskelet Radiol 2013 Jul;17(3):272-8. Epub 2013 Jun 20 doi: 10.1055/s-0033-1348093. PMID: 23787981
Bellemans J, Colyn W, Vandenneucker H, Victor J
Clin Orthop Relat Res 2012 Jan;470(1):45-53. doi: 10.1007/s11999-011-1936-5. PMID: 21656315Free PMC Article
Macfarlane RJ, Haddad FS
Ann R Coll Surg Engl 2010 Jul;92(5):363-7. doi: 10.1308/003588410X12699663903791. PMID: 20626968Free PMC Article
Kassarjian A, Brisson M, Palmer WE
Eur J Radiol 2007 Jul;63(1):29-35. Epub 2007 May 7 doi: 10.1016/j.ejrad.2007.03.020. PMID: 17485190

Therapy

Sun J, Zhang B, Geng L, Zheng Q, Li J, Cao W, Ni M, Zhang G
J Orthop Surg Res 2021 May 31;16(1):353. doi: 10.1186/s13018-021-02506-2. PMID: 34059087Free PMC Article
Blankstein M, Lentine B, Nelms NJ
J Am Acad Orthop Surg 2020 Jul 15;28(14):e586-e594. doi: 10.5435/JAAOS-D-19-00604. PMID: 32692094
Wang Z, Li H, Zhou Y, Deng W
Int Orthop 2020 Oct;44(10):1935-1942. Epub 2020 Jun 17 doi: 10.1007/s00264-020-04661-3. PMID: 32556383
Dietrich TJ, Dora C, Pfirrmann CW
Semin Musculoskelet Radiol 2013 Jul;17(3):272-8. Epub 2013 Jun 20 doi: 10.1055/s-0033-1348093. PMID: 23787981
Breuil V, Euller-Ziegler L
Joint Bone Spine 2001 Feb;68(1):26-33. doi: 10.1016/s1297-319x(00)00235-9. PMID: 11235777

Prognosis

Goronzy J, Franken L, Hartmann A, Thielemann F, Blum S, Günther KP, Nowotny J, Postler A
BMC Musculoskelet Disord 2020 Dec 26;21(1):846. doi: 10.1186/s12891-020-03878-y. PMID: 33357245Free PMC Article
Melbouci M, Mason RW, Suzuki Y, Fukao T, Orii T, Tomatsu S
Mol Genet Metab 2018 May;124(1):1-10. Epub 2018 Mar 16 doi: 10.1016/j.ymgme.2018.03.004. PMID: 29627275Free PMC Article
Goldstein RY, Kaye ID, Slover J, Feldman D
Bull Hosp Jt Dis (2013) 2014;72(1):28-42. PMID: 25150325
Bellemans J, Colyn W, Vandenneucker H, Victor J
Clin Orthop Relat Res 2012 Jan;470(1):45-53. doi: 10.1007/s11999-011-1936-5. PMID: 21656315Free PMC Article
Gholve PA, Cameron DB, Millis MB
Curr Opin Pediatr 2009 Feb;21(1):39-45. doi: 10.1097/MOP.0b013e328320acea. PMID: 19242240

Clinical prediction guides

Rego P, Mascarenhas V, Mafra I, Oliveira F, Pinto P, Ganz R
Int Orthop 2021 Jan;45(1):83-94. Epub 2020 Sep 30 doi: 10.1007/s00264-020-04822-4. PMID: 32997157
Goronzy J, Franken L, Hartmann A, Thielemann F, Blum S, Günther KP, Nowotny J, Postler A
BMC Musculoskelet Disord 2020 Dec 26;21(1):846. doi: 10.1186/s12891-020-03878-y. PMID: 33357245Free PMC Article
Goldstein RY, Kaye ID, Slover J, Feldman D
Bull Hosp Jt Dis (2013) 2014;72(1):28-42. PMID: 25150325
Dietrich TJ, Dora C, Pfirrmann CW
Semin Musculoskelet Radiol 2013 Jul;17(3):272-8. Epub 2013 Jun 20 doi: 10.1055/s-0033-1348093. PMID: 23787981
Bellemans J, Colyn W, Vandenneucker H, Victor J
Clin Orthop Relat Res 2012 Jan;470(1):45-53. doi: 10.1007/s11999-011-1936-5. PMID: 21656315Free PMC Article

Recent systematic reviews

Nogier A, Tourabaly I, Barreau X, Ramos-Pascual S, van Rooij F, Saffarini M, Courtin C
Clin J Sport Med 2022 Sep 1;32(5):e527-e542. Epub 2021 Nov 10 doi: 10.1097/JSM.0000000000000985. PMID: 34759183
Rangaswamaiah S, Gangathimmaiah V, Nordenstrom A, Falhammar H
Front Endocrinol (Lausanne) 2020;11:493. Epub 2020 Jul 31 doi: 10.3389/fendo.2020.00493. PMID: 32903805Free PMC Article
Nepple JJ, Vigdorchik JM, Clohisy JC
Am J Sports Med 2015 Nov;43(11):2833-40. Epub 2015 Jan 13 doi: 10.1177/0363546514563909. PMID: 25587186

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