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Posterior scalloping of vertebral bodies

MedGen UID:
337993
Concept ID:
C1850196
Finding
Synonym: Posterior vertebral body scalloping
 
HPO: HP:0005121

Definition

An excessive concavity of the posterior surface of one or more vertebral bodies. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPosterior scalloping of vertebral bodies

Conditions with this feature

Primrose syndrome
MedGen UID:
162911
Concept ID:
C0796121
Disease or Syndrome
Primrose syndrome is characterized by macrocephaly, hypotonia, developmental delay, intellectual disability with expressive speech delay, behavioral issues, a recognizable facial phenotype, radiographic features, and altered glucose metabolism. Additional features seen in adults: sparse body hair, distal muscle wasting, and contractures. Characteristic craniofacial features include brachycephaly, high anterior hairline, deeply set eyes, ptosis, downslanted palpebral fissures, high palate with torus palatinus, broad jaw, and large ears with small or absent lobes. Radiographic features include calcification of the external ear cartilage, multiple Wormian bones, platybasia, bathrocephaly, slender bones with exaggerated metaphyseal flaring, mild epiphyseal dysplasia, and spondylar dysplasia. Additional features include hearing impairment, ocular anomalies, cryptorchidism, and nonspecific findings on brain MRI.
Spondyloepimetaphyseal dysplasia with multiple dislocations
MedGen UID:
350960
Concept ID:
C1863732
Disease or Syndrome
Spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2) is characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly (summary by Min et al., 2011). For a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 (271640).
Spondyloepimetaphyseal dysplasia, Genevieve type
MedGen UID:
355314
Concept ID:
C1864872
Disease or Syndrome
Spondyloepiphyseal dysplasia of the Genevieve type (SEMDG) is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses (summary by van Karnebeek et al., 2016).
Mucopolysaccharidosis, type 10
MedGen UID:
1794274
Concept ID:
C5562064
Disease or Syndrome
Mucopolysaccharidosis type X (MPS10) is an autosomal recessive childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities (Verheyen et al., 2022).

Recent clinical studies

Etiology

Podkovik S, Martins KN, Ghanchi H, Hanak BW
Pediatr Neurosurg 2023;58(3):179-184. Epub 2023 May 2 doi: 10.1159/000530867. PMID: 37232030
Reis C, Carneiro E, Fonseca J, Pereira P, Vaz R, Pinto R, Capelinha AF, Lopes JM, Salgado A
Neuroradiology 2005 Feb;47(2):165-9. Epub 2005 Feb 2 doi: 10.1007/s00234-004-1321-0. PMID: 15688204
Kagaya H, Abe E, Sato K, Shimada Y, Kimura A
Spine (Phila Pa 1976) 2000 Jan 15;25(2):268-72. doi: 10.1097/00007632-200001150-00021. PMID: 10685494
Farrelly C, Stringer DA, Daneman A, Fitz CR, Sass-Kortsak A
J Can Assoc Radiol 1984 Dec;35(4):406-8. PMID: 6526854

Diagnosis

Fukatsu S, Ogihara S, Imada H, Ikemune S, Tamaru JI, Saita K
BMC Musculoskelet Disord 2022 May 30;23(1):508. doi: 10.1186/s12891-022-05463-x. PMID: 35637479Free PMC Article
Kankam SB, Kheiri G, Safavi M, Habibi Z, Nejat F
Childs Nerv Syst 2021 Oct;37(10):3261-3264. Epub 2021 Mar 8 doi: 10.1007/s00381-021-05100-3. PMID: 33683421
Iizuka Y, Iizuka H, Kobayashi R, Mieda T, Takagishi K
J Med Case Rep 2014 Dec 12;8:421. doi: 10.1186/1752-1947-8-421. PMID: 25495513Free PMC Article
Kagaya H, Abe E, Sato K, Shimada Y, Kimura A
Spine (Phila Pa 1976) 2000 Jan 15;25(2):268-72. doi: 10.1097/00007632-200001150-00021. PMID: 10685494
Savini R, Vicenzi G
Ital J Orthop Traumatol 1976 Apr;2(1):37-50. PMID: 824227

Therapy

Buckley M, Kuan S, Barton D
Emerg Med J 2008 Dec;25(12):857-8. doi: 10.1136/emj.2008.062372. PMID: 19033517
Nishimura G, Mugishima H, Hirao J, Yamato M
Eur J Pediatr 1997 Jun;156(6):432-5. doi: 10.1007/s004310050631. PMID: 9208235
Farrelly C, Stringer DA, Daneman A, Fitz CR, Sass-Kortsak A
J Can Assoc Radiol 1984 Dec;35(4):406-8. PMID: 6526854

Prognosis

Fukatsu S, Ogihara S, Imada H, Ikemune S, Tamaru JI, Saita K
BMC Musculoskelet Disord 2022 May 30;23(1):508. doi: 10.1186/s12891-022-05463-x. PMID: 35637479Free PMC Article
Matsui H, Imagama S, Ito Z, Ando K, Hirano K, Tauchi R, Muramoto A, Matsumoto T, Ishiguro N
Nagoya J Med Sci 2014 Feb;76(1-2):195-201. PMID: 25130006Free PMC Article
Reis C, Carneiro E, Fonseca J, Pereira P, Vaz R, Pinto R, Capelinha AF, Lopes JM, Salgado A
Neuroradiology 2005 Feb;47(2):165-9. Epub 2005 Feb 2 doi: 10.1007/s00234-004-1321-0. PMID: 15688204
Kagaya H, Abe E, Sato K, Shimada Y, Kimura A
Spine (Phila Pa 1976) 2000 Jan 15;25(2):268-72. doi: 10.1097/00007632-200001150-00021. PMID: 10685494
Farrelly C, Stringer DA, Daneman A, Fitz CR, Sass-Kortsak A
J Can Assoc Radiol 1984 Dec;35(4):406-8. PMID: 6526854

Clinical prediction guides

Matsui H, Imagama S, Ito Z, Ando K, Hirano K, Tauchi R, Muramoto A, Matsumoto T, Ishiguro N
Nagoya J Med Sci 2014 Feb;76(1-2):195-201. PMID: 25130006Free PMC Article
Smithson SF, Grier D, Hall CM
Clin Dysmorphol 2009 Jan;18(1):31-35. doi: 10.1097/MCD.0b013e3283189762. PMID: 19050402
Leeds NE, Jacobson HG
AJR Am J Roentgenol 1976 Mar;126(3):617-23. doi: 10.2214/ajr.126.3.617. PMID: 178211

Recent systematic reviews

Arici V, Rossi M, Bozzani A, Moia A, Odero A
Spine (Phila Pa 1976) 2012 Dec 15;37(26):E1665-71. doi: 10.1097/BRS.0b013e318273dc66. PMID: 22990367

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