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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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLumbar 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

CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.
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: 29376740Free 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

Diagnosis

CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.
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
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.
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
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
Prenatal diagnosis of Kniest dysplasia with three-dimensional helical computed tomography.
Wada R, Sawai H, Nishimura G, Isono K, Minagawa K, Takenobu T, Harada K, Tanaka H, Ishikura R, Komori S
J Matern Fetal Neonatal Med 2011 Sep;24(9):1181-4. Epub 2011 Jan 20 doi: 10.3109/14767058.2010.545903. PMID: 21250907

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

Prognosis

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
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

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: 29376740Free 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
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

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