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Abnormal femoral metaphysis morphology

MedGen UID:
870591
Concept ID:
C4025040
Anatomical Abnormality
Synonyms: Abnormality of the femoral metaphysis; Abnormality of the wide portion of the femoral bone
 
HPO: HP:0006489

Definition

An anomaly of the femoral metaphysis. [from HPO]

Conditions with this feature

Achondrogenesis, type IA
MedGen UID:
78546
Concept ID:
C0265273
Congenital Abnormality
The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Classification of Achondrogenesis Achondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA, corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB (600972), corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (200610). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder. Genetic Heterogeneity of Achondrogenesis Achondrogenesis type IB (ACG1B; 600972) is caused by mutation in the DTDST gene (606718), and achondrogenesis type II (ACG2; 200610) is caused by mutation in the COL2A1 gene (120140).

Recent clinical studies

Etiology

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
Pailhé R, Bedes L, Sales de Gauzy J, Tran R, Cavaignac E, Accadbled F
J Pediatr Orthop B 2014 Nov;23(6):523-8. doi: 10.1097/BPB.0000000000000087. PMID: 25153645
Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P
Musculoskelet Surg 2012 Aug;96(2):81-8. Epub 2011 Dec 27 doi: 10.1007/s12306-011-0174-z. PMID: 22201042
Faden MA, Krakow D, Ezgu F, Rimoin DL, Lachman RS
Am J Med Genet A 2009 Jun;149A(6):1334-45. doi: 10.1002/ajmg.a.32253. PMID: 19444897Free PMC Article
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

Kim Y, Park JW, Cho HS, Jang WY, Han I, Kim HS
Clin Orthop Relat Res 2023 Nov 1;481(11):2154-2163. Epub 2023 May 5 doi: 10.1097/CORR.0000000000002667. PMID: 37145140Free PMC Article
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
Acikgoz G, Averill LW
Nucl Med Commun 2014 Aug;35(8):797-807. doi: 10.1097/MNM.0000000000000126. PMID: 24736329
Thapa MM, Chaturvedi A, Iyer RS, Darling SE, Khanna PC, Ishak G, Chew FS
AJR Am J Roentgenol 2012 May;198(5):W456-65. doi: 10.2214/AJR.10.7317. PMID: 22528927
Pavlov H, Goldman AB, Freiberger RH
Radiology 1980 Jun;135(3):631-40. doi: 10.1148/radiology.135.3.7384448. PMID: 7384448

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
Delgado J, Jaramillo D, Chauvin NA, Guo M, Stratton MS, Sweeney HE, Barrera CA, Mostoufi-Moab S
Pediatr Radiol 2019 Jul;49(8):1056-1065. Epub 2019 May 4 doi: 10.1007/s00247-019-04409-1. PMID: 31055614Free PMC Article
Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P
Musculoskelet Surg 2012 Aug;96(2):81-8. Epub 2011 Dec 27 doi: 10.1007/s12306-011-0174-z. PMID: 22201042
Yuan Q, Sato T, Densmore M, Saito H, Schüler C, Erben RG, Lanske B
J Bone Miner Res 2011 Sep;26(9):2026-35. doi: 10.1002/jbmr.433. PMID: 21590742Free PMC Article
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
Acikgoz G, Averill LW
Nucl Med Commun 2014 Aug;35(8):797-807. doi: 10.1097/MNM.0000000000000126. PMID: 24736329
Yoo WJ, Kim YJ, Menezes NM, Cheon JE, Jaramillo D
Clin Orthop Relat Res 2011 Oct;469(10):2881-8. Epub 2011 Jun 10 doi: 10.1007/s11999-011-1931-x. PMID: 21660596Free PMC Article
Trigui M, Pannier S, Finidori G, Padovani JP, Glorion C
J Pediatr Orthop 2008 Sep;28(6):599-606. doi: 10.1097/BPO.0b013e3181831ec8. PMID: 18724194
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

Clinical prediction guides

Kim Y, Park JW, Cho HS, Jang WY, Han I, Kim HS
Clin Orthop Relat Res 2023 Nov 1;481(11):2154-2163. Epub 2023 May 5 doi: 10.1097/CORR.0000000000002667. PMID: 37145140Free 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
Trigui M, Pannier S, Finidori G, Padovani JP, Glorion C
J Pediatr Orthop 2008 Sep;28(6):599-606. doi: 10.1097/BPO.0b013e3181831ec8. PMID: 18724194
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
Powers JA, Bach PJ
South Med J 1977 Nov;70(11):1297-9. doi: 10.1097/00007611-197711000-00014. PMID: 918696

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