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Lateral femoral bowing

MedGen UID:
401070
Concept ID:
C1866737
Finding
HPO: HP:0005090

Definition

A lateral bending or abnormal curvature of the femur. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLateral femoral bowing

Conditions with this feature

Oto-palato-digital syndrome, type I
MedGen UID:
78542
Concept ID:
C0265251
Disease or Syndrome
The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.
Hyperphosphatasemia with bone disease
MedGen UID:
75678
Concept ID:
C0268414
Disease or Syndrome
Paget disease of bone-5 is an autosomal recessive, juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. There is phenotypic variability, with some patients presenting in infancy, while others present later in childhood (summary by Naot et al., 2014). For discussion of genetic heterogeneity of Paget disease of bone, see 167250.
Weismann-Netter syndrome
MedGen UID:
350610
Concept ID:
C1862172
Disease or Syndrome
The diagnostic hallmarks of Weismann-Netter syndrome (WNS) are anterior bowing of the diaphyses of the tibia and fibula, broadening or 'tibialization' of the fibula, posterior cortical thickening of both bones, and short stature. The diaphyses of other long bones may be similarly affected, but usually to a milder degree. Some WNS patients have also displayed mental retardation (summary by Peippo et al., 2009).

Professional guidelines

PubMed

Starr J, Tay YKD, Shane E
Curr Osteoporos Rep 2018 Aug;16(4):519-529. doi: 10.1007/s11914-018-0464-6. PMID: 29951870Free PMC Article

Recent clinical studies

Etiology

Liu L, Lei K, Guo L, Chen X, Yang P, Fu D, Xiong R, Yang L
Orthop Surg 2022 Dec;14(12):3209-3215. Epub 2022 Oct 17 doi: 10.1111/os.13545. PMID: 36250537Free PMC Article
Jeong SY, Hwang KT, Oh CW, Kim JW, Sohn OJ, Kim JW, Cho YH, Park KC
Bone Joint J 2021 Nov;103-B(11):1648-1655. doi: 10.1302/0301-620X.103B11.BJJ-2021-0416.R1. PMID: 34719278
Nam JH, Song SK, Cho MR, Kang DW, Choi WK
J Orthop Surg (Hong Kong) 2020 Sep-Dec;28(3):2309499020965679. doi: 10.1177/2309499020965679. PMID: 33078670
Shimosawa H, Nagura T, Harato K, Kobayashi S, Nakamura M, Matsumoto M, Niki Y
Surg Radiol Anat 2019 Dec;41(12):1489-1495. Epub 2019 Sep 13 doi: 10.1007/s00276-019-02323-7. PMID: 31520108
Starr J, Tay YKD, Shane E
Curr Osteoporos Rep 2018 Aug;16(4):519-529. doi: 10.1007/s11914-018-0464-6. PMID: 29951870Free PMC Article

Diagnosis

Nam JH, Song SK, Cho MR, Kang DW, Choi WK
J Orthop Surg (Hong Kong) 2020 Sep-Dec;28(3):2309499020965679. doi: 10.1177/2309499020965679. PMID: 33078670
Lee YK, Yeom J, Jang BW, Nho JH, Suh YS, Koo KH
J Orthop Surg (Hong Kong) 2019 Sep-Dec;27(3):2309499019881475. doi: 10.1177/2309499019881475. PMID: 31658864
Nakano N, Matsumoto T, Hashimura M, Takayama K, Ishida K, Araki D, Matsushita T, Kuroda R, Kurosaka M
Knee 2016 Mar;23(2):209-13. Epub 2016 Jan 7 doi: 10.1016/j.knee.2015.12.004. PMID: 26775257

Therapy

ALShammari SA, Choi KY, Koh IJ, Kim MS, In Y
BMC Musculoskelet Disord 2021 Apr 2;22(1):321. doi: 10.1186/s12891-021-04198-5. PMID: 33794854Free PMC Article
Starr J, Tay YKD, Shane E
Curr Osteoporos Rep 2018 Aug;16(4):519-529. doi: 10.1007/s11914-018-0464-6. PMID: 29951870Free PMC Article
Chen LP, Chang TK, Huang TY, Kwok TG, Lu YC
Calcif Tissue Int 2014 Sep;95(3):240-7. Epub 2014 Jul 1 doi: 10.1007/s00223-014-9887-y. PMID: 24980895
Lasam MP, Lee KJ, Chang CB, Kang YG, Kim TK
Clin Orthop Relat Res 2013 May;471(5):1472-83. doi: 10.1007/s11999-012-2618-7. PMID: 23011845Free PMC Article

Prognosis

Jeong SY, Hwang KT, Oh CW, Kim JW, Sohn OJ, Kim JW, Cho YH, Park KC
Bone Joint J 2021 Nov;103-B(11):1648-1655. doi: 10.1302/0301-620X.103B11.BJJ-2021-0416.R1. PMID: 34719278
Starr J, Tay YKD, Shane E
Curr Osteoporos Rep 2018 Aug;16(4):519-529. doi: 10.1007/s11914-018-0464-6. PMID: 29951870Free PMC Article
Shin WC, Moon NH, Jang JH, Park KY, Suh KT
J Orthop Sci 2017 Jan;22(1):99-104. Epub 2016 Oct 6 doi: 10.1016/j.jos.2016.09.009. PMID: 27720510

Clinical prediction guides

Jeong SY, Hwang KT, Oh CW, Kim JW, Sohn OJ, Kim JW, Cho YH, Park KC
Bone Joint J 2021 Nov;103-B(11):1648-1655. doi: 10.1302/0301-620X.103B11.BJJ-2021-0416.R1. PMID: 34719278
Lee HJ, Lim JW, Lee DH, Kim DH, Park YB
Knee Surg Sports Traumatol Arthrosc 2020 May;28(5):1579-1586. Epub 2019 Jun 22 doi: 10.1007/s00167-019-05577-1. PMID: 31230123
Soh HH, Chua IT, Kwek EB
Arch Orthop Trauma Surg 2015 Nov;135(11):1485-90. Epub 2015 Aug 19 doi: 10.1007/s00402-015-2297-4. PMID: 26286640
Lee JH, Wang SI
Clin Orthop Surg 2015 Jun;7(2):217-24. Epub 2015 May 18 doi: 10.4055/cios.2015.7.2.217. PMID: 26217469Free PMC Article
Lasam MP, Lee KJ, Chang CB, Kang YG, Kim TK
Clin Orthop Relat Res 2013 May;471(5):1472-83. doi: 10.1007/s11999-012-2618-7. PMID: 23011845Free PMC Article

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