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Abnormal proximal femoral metaphysis morphology

MedGen UID:
870598
Concept ID:
C4025047
Anatomical Abnormality
Synonyms: Abnormal wide portion of innermost thighbone; Proximal femoral metaphyseal abnormality
 
HPO: HP:0006431

Definition

An anomaly of the metaphysis of the proximal femur (close to the hip). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal proximal femoral metaphysis morphology

Conditions with this feature

Metaphyseal chondrodysplasia, Schmid type
MedGen UID:
78550
Concept ID:
C0265289
Disease or Syndrome
Schmid metaphyseal chondrodysplasia (SMCD) is characterized by progressive short stature that develops by age two years. The clinical and radiographic features are usually not present at birth, but manifest in early childhood with short limbs, genu varum, and waddling gait. Facial features and head size are normal. Radiographs show metaphyseal irregularities of the long bones (e.g., splaying, flaring, cupping); shortening of the tubular bones; widened growth plates; coxa vara; and anterior cupping, sclerosis, and splaying of the ribs. Mild hand involvement often includes shortening of the tubular bones and metaphyseal cupping of the metacarpals and proximal phalanges. Platyspondyly and vertebral end-plate irregularities are less common. Hand and vertebral involvement can resolve with age. Early motor milestones may be delayed due to orthopedic complications. Intelligence is normal. Joint pain in the knees and hips is common and may limit physical activity. Adult height is typically more than 3.5 SD below the mean, although a wide spectrum that overlaps normal height has been reported. There are no extraskeletal manifestations.

Recent clinical studies

Etiology

Wettstein M, Mouhsine E, Aubaniac JM, Audigé L, Ollivier M, Leyvraz PF, Argenson JN
Hip Int 2023 Mar;33(2):254-261. Epub 2021 Aug 26 doi: 10.1177/11207000211037196. PMID: 34445907
Zhao R, Cai H, Tian H, Zhang K
J Pak Med Assoc 2021 Dec;71(12):2700-2704. doi: 10.47391/JPMA.267. PMID: 35150523
Ferlic PW, Runer A, Seeber C, Thöni M, Seitlinger G, Liebensteiner MC
Int Orthop 2018 Jun;42(6):1227-1231. Epub 2017 Aug 14 doi: 10.1007/s00264-017-3598-8. PMID: 28808753
Fouilleron N, Marchetti E, Autissier G, Gougeon F, Migaud H, Girard J
Orthop Traumatol Surg Res 2010 Nov;96(7):785-92. Epub 2010 Sep 28 doi: 10.1016/j.otsr.2010.04.008. PMID: 20880768
Taylor C, Brady P, O'Meara A, Moore D, Dowling F, Fogarty E
J Pediatr Orthop 2008 Mar;28(2):163-8. doi: 10.1097/BPO.0b013e3181649e25. PMID: 18388709

Diagnosis

Wettstein M, Mouhsine E, Aubaniac JM, Audigé L, Ollivier M, Leyvraz PF, Argenson JN
Hip Int 2023 Mar;33(2):254-261. Epub 2021 Aug 26 doi: 10.1177/11207000211037196. PMID: 34445907
Zhao R, Cai H, Tian H, Zhang K
J Pak Med Assoc 2021 Dec;71(12):2700-2704. doi: 10.47391/JPMA.267. PMID: 35150523
Hosseinzadeh S, Novais EN, Emami A, Portilla G, Maranho DA, Kim YJ, Kiapour AM
Clin Orthop Relat Res 2021 May 1;479(5):922-931. doi: 10.1097/CORR.0000000000001602. PMID: 33337602Free PMC Article
Pobirci DD, Bogdan F, Pobirci O, Petcu CA, Roşca E
Rom J Morphol Embryol 2011;52(1 Suppl):385-8. PMID: 21424079
Steiner RM, Mitchell DG, Rao VM, Murphy S, Rifkin MD, Burk DL Jr, Ballas SK, Vinitski S
Magn Reson Q 1990 Jan;6(1):17-34. PMID: 2200500

Therapy

Hosseinzadeh S, Novais EN, Emami A, Portilla G, Maranho DA, Kim YJ, Kiapour AM
Clin Orthop Relat Res 2021 May 1;479(5):922-931. doi: 10.1097/CORR.0000000000001602. PMID: 33337602Free PMC Article
Chan Y, Li C, Chu WC, Pang L, Cheng JC, Chik KW
AJR Am J Roentgenol 2000 Dec;175(6):1561-6. doi: 10.2214/ajr.175.6.1751561. PMID: 11090375
Grant AD, Strongwater A, Lehman W, Nelson J, Atar D
J Pediatr Orthop 1990 Jan-Feb;10(1):9-13. PMID: 2298902
Finsen V
Calcif Tissue Int 1988 Jan;42(1):1-4. doi: 10.1007/BF02555831. PMID: 3129162

Prognosis

Hosseinzadeh S, Novais EN, Emami A, Portilla G, Maranho DA, Kim YJ, Kiapour AM
Clin Orthop Relat Res 2021 May 1;479(5):922-931. doi: 10.1097/CORR.0000000000001602. PMID: 33337602Free PMC Article
Pobirci DD, Bogdan F, Pobirci O, Petcu CA, Roşca E
Rom J Morphol Embryol 2011;52(1 Suppl):385-8. PMID: 21424079
Fouilleron N, Marchetti E, Autissier G, Gougeon F, Migaud H, Girard J
Orthop Traumatol Surg Res 2010 Nov;96(7):785-92. Epub 2010 Sep 28 doi: 10.1016/j.otsr.2010.04.008. PMID: 20880768
Taylor C, Brady P, O'Meara A, Moore D, Dowling F, Fogarty E
J Pediatr Orthop 2008 Mar;28(2):163-8. doi: 10.1097/BPO.0b013e3181649e25. PMID: 18388709
Niu J, Feng G, Kong X, Wang J, Han P
J Huazhong Univ Sci Technolog Med Sci 2007 Oct;27(5):617-21. doi: 10.1007/s11596-007-0537-8. PMID: 18060651

Clinical prediction guides

Hosseinzadeh S, Novais EN, Emami A, Portilla G, Maranho DA, Kim YJ, Kiapour AM
Clin Orthop Relat Res 2021 May 1;479(5):922-931. doi: 10.1097/CORR.0000000000001602. PMID: 33337602Free 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
Pobirci DD, Bogdan F, Pobirci O, Petcu CA, Roşca E
Rom J Morphol Embryol 2011;52(1 Suppl):385-8. PMID: 21424079
Fouilleron N, Marchetti E, Autissier G, Gougeon F, Migaud H, Girard J
Orthop Traumatol Surg Res 2010 Nov;96(7):785-92. Epub 2010 Sep 28 doi: 10.1016/j.otsr.2010.04.008. PMID: 20880768
Taylor C, Brady P, O'Meara A, Moore D, Dowling F, Fogarty E
J Pediatr Orthop 2008 Mar;28(2):163-8. doi: 10.1097/BPO.0b013e3181649e25. PMID: 18388709

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