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Abnormality of the epiphysis of the femoral head

MedGen UID:
866896
Concept ID:
C4021252
Anatomical Abnormality
Synonyms: Abnormality of the end part of the innermost thighbone; Abnormality of the proximal femoral epiphysis
 
HPO: HP:0010574

Definition

Any abnormality of the proximal epiphysis of the femur. [from HPO]

Conditions with this feature

Epiphyseal dysplasia of femoral head, myopia, and deafness
MedGen UID:
346470
Concept ID:
C1856918
Disease or Syndrome
Infantile liver failure syndrome 3
MedGen UID:
1684678
Concept ID:
C5231437
Disease or Syndrome
Infantile liver failure syndrome-3 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there usually is complete recovery between episodes with conservative treatment. Affected individuals also have skeletal anomalies of the vertebral bodies and femoral heads (summary by Cousin et al., 2019). For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (615438).

Professional guidelines

PubMed

Haruno LS, Kan JH, Rivlin MJ, Rosenfeld SB, Schallert EK, Zhu H, Shenava VR
J Pediatr Orthop B 2019 Sep;28(5):424-429. doi: 10.1097/BPB.0000000000000606. PMID: 30807510
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
Xia XY, Cui YX, Huang YF, Pan LJ, Feng Y, Yang B, Li XJ, Zhu PY, Shi YC, Liang Q
Clin Chim Acta 2008 Jan;387(1-2):153-7. Epub 2007 Sep 18 doi: 10.1016/j.cca.2007.09.006. PMID: 17920052

Recent clinical studies

Therapy

Chang YY, Lee CC, Lin SC, Kuo KN, Chang JF, Wu KW, Wang TM
Orphanet J Rare Dis 2023 Oct 30;18(1):340. doi: 10.1186/s13023-023-02920-1. PMID: 37904148Free PMC Article
Lindgren AM, Bomar JD, Upasani VV, Wenger DR
J Pediatr Orthop B 2022 Nov 1;31(6):554-559. Epub 2022 May 3 doi: 10.1097/BPB.0000000000000982. PMID: 35502749
Liu J, Zhou W, Li L, Zhang L, Li Q, Wang E
J Orthop Res 2021 Jul;39(7):1433-1440. Epub 2020 Sep 28 doi: 10.1002/jor.24864. PMID: 32946117
Glorion C
Orthop Traumatol Surg Res 2018 Feb;104(1S):S147-S157. Epub 2017 Dec 2 doi: 10.1016/j.otsr.2017.04.021. PMID: 29203431
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

Prognosis

Woratanarat P, Lorungroj K, Dechosilpa C, Jaovisidha S, Danpakdeekul N, Woratanarat T, Thakkinstian A
J Pediatr Orthop 2018 Nov/Dec;38(10):e577-e583. doi: 10.1097/BPO.0000000000001252. PMID: 30199461
Novais EN, Millis MB
Clin Orthop Relat Res 2012 Dec;470(12):3432-8. doi: 10.1007/s11999-012-2452-y. PMID: 23054509Free PMC Article
Larson AN, Sierra RJ, Yu EM, Trousdale RT, Stans AA
J Pediatr Orthop 2012 Mar;32(2):125-30. doi: 10.1097/BPO.0b013e318246efcb. PMID: 22327445
Gholve PA, Cameron DB, Millis MB
Curr Opin Pediatr 2009 Feb;21(1):39-45. doi: 10.1097/MOP.0b013e328320acea. PMID: 19242240
Lehmann CL, Arons RR, Loder RT, Vitale MG
J Pediatr Orthop 2006 May-Jun;26(3):286-90. doi: 10.1097/01.bpo.0000217718.10728.70. PMID: 16670536

Clinical prediction guides

Youngman TR, Johnson BL, Morris WZ, Montanez B, Serbin PA, Wagner KJ 3rd, Wilson PL, Alizai H, Ellis HB Jr
Am J Sports Med 2023 Dec;51(14):3749-3755. Epub 2023 Nov 9 doi: 10.1177/03635465231206815. PMID: 37942655
Chang YY, Lee CC, Lin SC, Kuo KN, Chang JF, Wu KW, Wang TM
Orphanet J Rare Dis 2023 Oct 30;18(1):340. doi: 10.1186/s13023-023-02920-1. PMID: 37904148Free PMC Article
Suzuki Y, Matsubayashi J, Ji X, Yamada S, Yoneyama A, Imai H, Matsuda T, Aoyama T, Takakuwa T
PLoS One 2019;14(8):e0221569. Epub 2019 Aug 23 doi: 10.1371/journal.pone.0221569. PMID: 31442281Free PMC Article
Novais EN, Millis MB
Clin Orthop Relat Res 2012 Dec;470(12):3432-8. doi: 10.1007/s11999-012-2452-y. PMID: 23054509Free PMC Article
Powers JA, Bach PJ
South Med J 1977 Nov;70(11):1297-9. doi: 10.1097/00007611-197711000-00014. PMID: 918696

Recent systematic reviews

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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