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Lumbar platyspondyly

MedGen UID:: 870682
•Concept ID:: C4025136
•: Anatomical Abnormality

HPO:	HP:0005787

Definition

A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the lumbar spine. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLumbar platyspondyly

Abnormal skeletal morphology
- Abnormal axial skeleton morphology
  - Abnormality of the vertebral column
    - Abnormal vertebral morphology
      - Abnormal form of the vertebral bodies
        Platyspondyly
        Lumbar platyspondyly

Conditions with this feature

Spondylometaphyseal dysplasia with corneal dystrophy

MedGen UID:: 1714019
•Concept ID:: C5394555
•: Disease or Syndrome

Spondylometaphyseal dysplasia with corneal dystrophy (SMDCD) is characterized by short stature due to short proximal and distal long bones. Affected individuals also exhibit narrow thorax with pulmonary hypoplasia and respiratory failure, as well as corneal dystrophy. Severe developmental delay has been observed (Ben-Salem et al., 2018).

See: Condition Record

Spondylometaphyseal dysplasia with corneal dystrophy

Recent clinical studies

Etiology

Otaify GA, Elhossini RM, Abdel-Ghafar SF, Sayed IM, Abdel-Salam GMH, Aglan MS, Abdel-Hamid MS
Am J Med Genet A 2023 Aug;191(8):2100-2112. Epub 2023 May 14 doi: 10.1002/ajmg.a.63246. PMID: 37183573

The Management of Kyphosis in Metatropic Dysplasia.

Bauer JM, Ditro CP, Mackenzie WG
Spine Deform 2019 May;7(3):494-500. doi: 10.1016/j.jspd.2018.09.007. PMID: 31053321

Evaluation of spinal involvement in children with mucopolysaccharidosis VI: the role of MRI.

Bulut E, Pektas E, Sivri HS, Bilginer B, Umaroglu MM, Ozgen B
Br J Radiol 2018 May;91(1085):20170744. Epub 2018 Feb 13 doi: 10.1259/bjr.20170744. PMID: 29376740 Free PMC Article

Dual-Energy X-ray Absorptiometry Predictors of Vertebral Deformities in Beta-Thalassemia Major.

Osella G, Priola AM, Priola SM, Piga A, Longo F, Ventura M, Bentivegna G, Angeli A, Veltri A, Terzolo M
J Clin Densitom 2018 Oct-Dec;21(4):507-516. Epub 2017 Jul 27 doi: 10.1016/j.jocd.2017.06.028. PMID: 28756994

Short-limb skeletal dysplasias: evaluation of the fetal spine with sonography and radiography.

Rouse GA, Filly RA, Toomey F, Grube GL
Radiology 1990 Jan;174(1):177-80. doi: 10.1148/radiology.174.1.2403680. PMID: 2403680

See all (5)

Diagnosis

Exome sequencing revealed USP9X and COL2A1 mutations in a large family with multiple epiphyseal dysplasia.

Luo ZJ, Li H, Yang L, Kang B, Cai T
Bone 2022 Oct;163:116508. Epub 2022 Jul 28 doi: 10.1016/j.bone.2022.116508. PMID: 35907616

Dual-Energy X-ray Absorptiometry Predictors of Vertebral Deformities in Beta-Thalassemia Major.

Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations.

Sargar KM, Singh AK, Kao SC
Radiographics 2017 Oct;37(6):1813-1830. doi: 10.1148/rg.2017170017. PMID: 29019756

MRI of multiple platyspondyly in Gaucher disease: response to enzyme replacement therapy.

Hill SC, Parker CC, Brady RO, Barton NW
J Comput Assist Tomogr 1993 Sep-Oct;17(5):806-9. doi: 10.1097/00004728-199309000-00026. PMID: 8370839

Lumbar platyspondyly--characteristic sign of Ehlers-Danlos syndrome.

Kozlowski K, Padilla C, Sillence D
Skeletal Radiol 1991;20(8):589-90. doi: 10.1007/BF01106089. PMID: 1776025

See all (16)

Therapy

Sponastrime dysplasia with abnormal urinary glycosaminoglycans and growth hormone unresponsiveness.

Umpaichitra V, Wallerstein R, Castells S
Clin Dysmorphol 2002 Jan;11(1):53-6. doi: 10.1097/00019605-200201000-00011. PMID: 11822706

Platyspondyly in treated beta-thalassemia.

Orzincolo C, Castaldi G, Scutellari PN
Eur J Radiol 1994 May;18(2):129-33. doi: 10.1016/0720-048x(94)90280-1. PMID: 8055985

MRI of multiple platyspondyly in Gaucher disease: response to enzyme replacement therapy.

Hill SC, Parker CC, Brady RO, Barton NW
J Comput Assist Tomogr 1993 Sep-Oct;17(5):806-9. doi: 10.1097/00004728-199309000-00026. PMID: 8370839

See all (3)

Prognosis

Dual-Energy X-ray Absorptiometry Predictors of Vertebral Deformities in Beta-Thalassemia Major.

Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients.

Nishimura G, Honma T, Shiihara T, Manabe N, Nakajima E, Adachi M, Mikawa M, Fukushima Y, Ikegawa S
Am J Med Genet A 2003 Mar 1;117A(2):147-53. doi: 10.1002/ajmg.a.10927. PMID: 12567412

See all (2)

Clinical prediction guides

The Management of Kyphosis in Metatropic Dysplasia.

Bauer JM, Ditro CP, Mackenzie WG
Spine Deform 2019 May;7(3):494-500. doi: 10.1016/j.jspd.2018.09.007. PMID: 31053321

Evaluation of spinal involvement in children with mucopolysaccharidosis VI: the role of MRI.

Bulut E, Pektas E, Sivri HS, Bilginer B, Umaroglu MM, Ozgen B
Br J Radiol 2018 May;91(1085):20170744. Epub 2018 Feb 13 doi: 10.1259/bjr.20170744. PMID: 29376740 Free PMC Article

Dual-Energy X-ray Absorptiometry Predictors of Vertebral Deformities in Beta-Thalassemia Major.

A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene.

Sellick GS, Hoornaert KP, Mortier GR, King C, Dolling CL, Newbury-Ecob RA, Gargan M, Hall CM, Houlston RS, Smithson SF
Clin Dysmorphol 2006 Oct;15(4):197-202. doi: 10.1097/01.mcd.0000220616.55402.03. PMID: 16957471

Lumbar platyspondyly--characteristic sign of Ehlers-Danlos syndrome.

Kozlowski K, Padilla C, Sillence D
Skeletal Radiol 1991;20(8):589-90. doi: 10.1007/BF01106089. PMID: 1776025

See all (5)

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Lumbar platyspondyly

Definition

Term Hierarchy

Conditions with this feature

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Table of contents

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Reviews

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