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Lower-limb metaphyseal irregularity

MedGen UID:
868143
•Concept ID:
C4022534
•
Anatomical Abnormality
HPO: HP:0030291

Definition

Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg. [from HPO]

Conditions with this feature

Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
MedGen UID:
1684771
•Concept ID:
C5231478
•
Disease or Syndrome
The Isidor-Toutain type of spondyloepimetaphyseal dysplasia (SEMDIST) is characterized by normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. Skeletal radiographs show platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs (Le Caignec et al., 2019).
See: Condition Record
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type

Recent clinical studies

Etiology

Metaphyseal dysplasia, Spahr type: a mimicker of rickets.
Balasubramaniyan M, Kaur A, Sinha A, Gopinathan NR
BMJ Case Rep 2019 Aug 13;12(8) doi: 10.1136/bcr-2019-230257. PMID: 31413057Free PMC Article
Incidental findings on knee radiographs in children and adolescents.
Seo SG, Sung KH, Chung CY, Lee KM, Lee SY, Choi Y, Kim TG, Baek JK, Kwon SS, Kwon DG, Choi IH, Cho TJ, Yoo WJ, Park MS
Clin Orthop Surg 2014 Sep;6(3):305-11. Epub 2014 Aug 5 doi: 10.4055/cios.2014.6.3.305. PMID: 25177456Free PMC Article

Diagnosis

Metaphyseal dysplasia, Spahr type: a mimicker of rickets.
Balasubramaniyan M, Kaur A, Sinha A, Gopinathan NR
BMJ Case Rep 2019 Aug 13;12(8) doi: 10.1136/bcr-2019-230257. PMID: 31413057Free PMC Article
A novel sequence variant in COL10A1 causing spondylometaphyseal dysplasia accompanied with coxa valga: A case report.
Zhang X, Liang H, Liu W, Li X, Zhang W, Shang X
Medicine (Baltimore) 2019 Jul;98(30):e16485. doi: 10.1097/MD.0000000000016485. PMID: 31348255Free PMC Article
Deferoxamine-induced dysplasia of the knee: sonographic features and diagnostic performance compared with magnetic resonance imaging.
Chan YL, Chu CW, Chik KW, Pang LM, Shing MK, Li CK
J Ultrasound Med 2001 Jul;20(7):723-8. doi: 10.7863/jum.2001.20.7.723. PMID: 11444730
A regional approach to the classic metaphyseal lesion in abused infants: the proximal humerus.
Kleinman PK, Marks SC Jr
AJR Am J Roentgenol 1996 Dec;167(6):1399-403. doi: 10.2214/ajr.167.6.8956566. PMID: 8956566
Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings.
Shohat M, Rimoin DL, Gruber HE, Lachman RS
Pediatr Radiol 1991;21(6):421-7. doi: 10.1007/BF02026677. PMID: 1749675

Therapy

Deferoxamine-induced dysplasia of the knee: sonographic features and diagnostic performance compared with magnetic resonance imaging.
Chan YL, Chu CW, Chik KW, Pang LM, Shing MK, Li CK
J Ultrasound Med 2001 Jul;20(7):723-8. doi: 10.7863/jum.2001.20.7.723. PMID: 11444730

Prognosis

Deferoxamine-induced dysplasia of the knee: sonographic features and diagnostic performance compared with magnetic resonance imaging.
Chan YL, Chu CW, Chik KW, Pang LM, Shing MK, Li CK
J Ultrasound Med 2001 Jul;20(7):723-8. doi: 10.7863/jum.2001.20.7.723. PMID: 11444730

Clinical prediction guides

A novel sequence variant in COL10A1 causing spondylometaphyseal dysplasia accompanied with coxa valga: A case report.
Zhang X, Liang H, Liu W, Li X, Zhang W, Shang X
Medicine (Baltimore) 2019 Jul;98(30):e16485. doi: 10.1097/MD.0000000000016485. PMID: 31348255Free PMC Article
Deferoxamine-induced dysplasia of the knee: sonographic features and diagnostic performance compared with magnetic resonance imaging.
Chan YL, Chu CW, Chik KW, Pang LM, Shing MK, Li CK
J Ultrasound Med 2001 Jul;20(7):723-8. doi: 10.7863/jum.2001.20.7.723. PMID: 11444730
Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings.
Shohat M, Rimoin DL, Gruber HE, Lachman RS
Pediatr Radiol 1991;21(6):421-7. doi: 10.1007/BF02026677. PMID: 1749675

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