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Biconcave vertebral bodies

MedGen UID:
383834
Concept ID:
C1856087
Finding
Synonyms: Biconcave 'codfish' vertebrae; Biconcave vertebrae; Codfish vertebrae; Scalloping of vertebral bodies; Vertebral body scalloping
 
HPO: HP:0004586

Definition

Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. [from HPO]

Conditions with this feature

Hurler syndrome
MedGen UID:
39698
Concept ID:
C0086795
Disease or Syndrome
Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I. Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I. Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.
Pituitary dependent hypercortisolism
MedGen UID:
66381
Concept ID:
C0221406
Disease or Syndrome
AIP familial isolated pituitary adenoma (AIP-FIPA) is defined as the presence of an AIP germline pathogenic variant in an individual with a pituitary adenoma (regardless of family history). The most commonly occurring pituitary adenomas in this disorder are growth hormone-secreting adenomas (somatotropinoma), followed by prolactin-secreting adenomas (prolactinoma), growth hormone and prolactin co-secreting adenomas (somatomammotropinoma), and nonfunctioning pituitary adenomas (NFPA). Rarely TSH-secreting adenomas (thyrotropinomas) are observed. Clinical findings result from excess hormone secretion, lack of hormone secretion, and/or mass effects (e.g., headaches, visual field loss). Within the same family, pituitary adenomas can be of the same or different type. Age of onset in AIP-FIPA is usually in the second or third decade.
Osteogenesis imperfecta type III
MedGen UID:
78664
Concept ID:
C0268362
Disease or Syndrome
COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).
Osteoporosis with pseudoglioma
MedGen UID:
98480
Concept ID:
C0432252
Disease or Syndrome
Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple bone fractures, including in the bones that form the spine (vertebrae). Multiple fractures can cause collapse of the affected vertebrae (compressed vertebrae), abnormal side-to-side curvature of the spine (scoliosis), short stature, and limb deformities. Decreased bone mineral density can also cause softening or thinning of the skull (craniotabes).\n\nMost affected individuals have impaired vision at birth or by early infancy and are blind by young adulthood. Vision problems are usually caused by one of several eye conditions, grouped together as pseudoglioma, that affect the light-sensitive tissue at the back of the eye (the retina), although other eye conditions have been identified in affected individuals. Pseudogliomas are so named because, on examination, the conditions resemble an eye tumor known as a retinal glioma.\n\nRarely, people with osteoporosis-pseudoglioma syndrome have additional signs or symptoms such as mild intellectual disability, weak muscle tone (hypotonia), abnormally flexible joints, or seizures.
Geroderma osteodysplastica
MedGen UID:
98149
Concept ID:
C0432255
Disease or Syndrome
Geroderma osteodysplasticum (GO) is an autosomal recessive disorder characterized by skin wrinkling limited to the dorsa of hands and feet and to the abdomen, bowed long bones, and osteopenia with frequent fractures. There is a distinctive facial appearance with droopy skin at the cheeks, maxillary hypoplasia, and large ears. Adult patients appear prematurely aged (summary by Rajab et al., 2008).
Classic homocystinuria
MedGen UID:
199606
Concept ID:
C0751202
Disease or Syndrome
Homocystinuria caused by cystathionine ß-synthase (CBS) deficiency is characterized by involvement of the eye (ectopia lentis and/or severe myopia), skeletal system (excessive height, long limbs, scolioisis, and pectus excavatum), vascular system (thromboembolism), and CNS (developmental delay/intellectual disability). All four ? or only one ? of the systems can be involved; expressivity is variable for all of the clinical signs. It is not unusual for a previously asymptomatic individual to present in adult years with only a thromboembolic event that is often cerebrovascular. Two phenotypic variants are recognized, B6-responsive homocystinuria and B6-non-responsive homocystinuria. B6-responsive homocystinuria is usually milder than the non-responsive variant. Thromboembolism is the major cause of early death and morbidity. IQ in individuals with untreated homocystinuria ranges widely, from 10 to 138. In B6-responsive individuals the mean IQ is 79 versus 57 for those who are B6-non-responsive. Other features that may occur include: seizures, psychiatric problems, extrapyramidal signs (e.g., dystonia), hypopigmentation of the skin and hair, malar flush, livedo reticularis, and pancreatitis.
Hajdu-Cheney syndrome
MedGen UID:
182961
Concept ID:
C0917715
Disease or Syndrome
Hajdu-Cheney syndrome (HJCYS) is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011).
Sponastrime dysplasia
MedGen UID:
266247
Concept ID:
C1300260
Disease or Syndrome
Sponastrime dysplasia is an autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) named for characteristic clinical and radiographic findings, including spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Radiographically, the abnormalities of the lumbar vertebral bodies are suggested to be the most specific finding because the characteristic metaphyseal striations may not be apparent at young ages. Striking clinical variability in presentation, severity, and associated features has been observed (summary by Burrage et al., 2019).
Lateral meningocele syndrome
MedGen UID:
342070
Concept ID:
C1851710
Disease or Syndrome
NOTCH3-related lateral meningocele syndrome (LMS) is characterized by multiple lateral spinal meningoceles (protrusions of the arachnoid and dura through spinal foramina), distinctive facial features, joint hyperextensibility, hypotonia, and skeletal, cardiac, and urogenital anomalies. Neurologic sequelæ of the meningoceles depend on size and location and can include neurogenic bladder, paresthesia, back pain, and/or paraparesis. Other neurologic findings can include Chiari I malformation, syringomyelia, and rarely, hydrocephalus. Additional findings of LMS include developmental delay, mixed or conductive hearing loss, and cleft palate. Skeletal abnormalities may include scoliosis, vertebral fusion, scalloping of vertebrae, and wormian bones. Infants may demonstrate feeding difficulties with poor weight gain.
Osteogenesis imperfecta type 5
MedGen UID:
419332
Concept ID:
C2931093
Disease or Syndrome
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Glorieux et al. (2000) described a novel autosomal dominant form of OI, which they designated OI type V (OI5), in 7 patients. The disorder was similar to OI type IV but had distinctive clinical, histologic, and molecular characteristics. OI type V is characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation (summary by Cho et al., 2012). OI type V has a variable phenotype. For example, in patients with the more common c.-14C-T variant (614757.0001), distinctive radiographic findings (calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation) are often seen, whereas these findings are not seen in patients with the less common S40L variant (614757.0002).
Osteogenesis imperfecta type 11
MedGen UID:
462568
Concept ID:
C3151218
Disease or Syndrome
Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by Alanay et al., 2010).
Osteogenesis imperfecta type 6
MedGen UID:
481194
Concept ID:
C3279564
Disease or Syndrome
Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. Osteogenesis imperfecta type VI is a severe autosomal recessive form of the disorder (Glorieux et al., 2002; Becker et al., 2011).
Osteogenesis imperfecta, type 18
MedGen UID:
1635201
Concept ID:
C4693736
Disease or Syndrome
Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life (Doyard et al., 2018).
Osteogenesis imperfecta, type 19
MedGen UID:
1648353
Concept ID:
C4746956
Disease or Syndrome
Osteogenesis imperfecta type XIX (OI19) is characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, as well as variable scoliosis and pectal deformity, and marked anterior angulation of the tibia (Lindert et al., 2016).
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
MedGen UID:
1780157
Concept ID:
C5543257
Disease or Syndrome
SHILCA is characterized by early-onset retinal degeneration in association with sensorineural hearing loss, short stature, vertebral anomalies, and epiphyseal dysplasia, as well as motor and intellectual delay. Delayed myelination, leukoencephalopathy, and hypoplasia of the corpus callosum and cerebellum have been observed on brain MRI (Bedoni et al., 2020).

Professional guidelines

PubMed

Mistry R, Hughes D, Wadhwa V, Parr N
J Urol 2011 Aug;186(2):474-80. Epub 2011 Jun 25 doi: 10.1016/j.juro.2011.03.149. PMID: 21705031
Hanscom DA, Winter RB, Lutter L, Lonstein JE, Bloom BA, Bradford DS
J Bone Joint Surg Am 1992 Apr;74(4):598-616. PMID: 1583055

Recent clinical studies

Etiology

García-Carrasco M, Mendoza-Pinto C, León-Vázquez ML, Méndez-Martínez S, Etchegaray-Morales I, Montiel-Jarquín Á, Enriquez-Guerra MA, Muñóz-Guarneros M, Gálvez-Romero JL, Soto-Santillán P, Cervera R
Calcif Tissue Int 2017 Sep;101(3):291-299. Epub 2017 May 15 doi: 10.1007/s00223-017-0286-z. PMID: 28508265
Gan M, Zou J, Song D, Zhu X, Wang G, Yang H
Acta Radiol 2014 Oct;55(8):985-91. Epub 2013 Nov 26 doi: 10.1177/0284185113511603. PMID: 24280137
Stern D, Njagulj V, Likar B, Pernuš F, Vrtovec T
Osteoporos Int 2013 Apr;24(4):1357-68. Epub 2012 Jul 24 doi: 10.1007/s00198-012-2089-4. PMID: 22825483
Kwok AW, Wang YX, Griffith JF, Deng M, Leung JC, Ahuja AT, Leung PC
Spine (Phila Pa 1976) 2012 Nov 1;37(23):E1415-21. doi: 10.1097/BRS.0b013e31826f561e. PMID: 22914705
Tallroth K, Malmivaara A, Laitinen ML, Savolainen A, Harilainen A
Skeletal Radiol 1995 Jul;24(5):337-40. doi: 10.1007/BF00197061. PMID: 7570153

Diagnosis

Kabenkama JMK, Banza L, Tshibola JM, Muamba JM, Tozin RR, Tshikwela ML
Arch Osteoporos 2018 Mar 1;13(1):13. doi: 10.1007/s11657-018-0431-y. PMID: 29497872
Miller JA, Bowen A, Morisada MV, Margetis K, Lubelski D, Lieberman IH, Benzel EC, Mroz TE
Spine J 2015 Oct 1;15(10):2149-56. Epub 2015 May 22 doi: 10.1016/j.spinee.2015.05.026. PMID: 26008684
Stern D, Njagulj V, Likar B, Pernuš F, Vrtovec T
Osteoporos Int 2013 Apr;24(4):1357-68. Epub 2012 Jul 24 doi: 10.1007/s00198-012-2089-4. PMID: 22825483
Tomomitsu T, Murase K, Sone T, Fukunaga M
Eur J Radiol 2005 Oct;56(1):102-6. Epub 2005 Jan 19 doi: 10.1016/j.ejrad.2004.12.005. PMID: 16168271
Tallroth K, Malmivaara A, Laitinen ML, Savolainen A, Harilainen A
Skeletal Radiol 1995 Jul;24(5):337-40. doi: 10.1007/BF00197061. PMID: 7570153

Therapy

Liu T, Li Z, Su Q, Hai Y
Medicine (Baltimore) 2017 Jun;96(25):e7216. doi: 10.1097/MD.0000000000007216. PMID: 28640112Free PMC Article
Diel P, Röder C, Perler G, Vordemvenne T, Scholz M, Kandziora F, Fürderer S, Eiskjaer S, Maestretti G, Rotter R, Benneker LM, Heini PF
BMC Musculoskelet Disord 2013 Aug 8;14:233. doi: 10.1186/1471-2474-14-233. PMID: 23927056Free PMC Article
Pasco JA, Henry MJ, Korn S, Nicholson GC, Kotowicz MA
Osteoporos Int 2009 May;20(5):787-92. Epub 2008 Sep 19 doi: 10.1007/s00198-008-0744-6. PMID: 18802658
Tomomitsu T, Murase K, Sone T, Fukunaga M
Eur J Radiol 2005 Oct;56(1):102-6. Epub 2005 Jan 19 doi: 10.1016/j.ejrad.2004.12.005. PMID: 16168271
Ismail AA, Cooper C, Felsenberg D, Varlow J, Kanis JA, Silman AJ, O'Neill TW
Osteoporos Int 1999;9(3):206-13. doi: 10.1007/s001980050138. PMID: 10450408

Prognosis

García-Carrasco M, Mendoza-Pinto C, León-Vázquez ML, Méndez-Martínez S, Etchegaray-Morales I, Montiel-Jarquín Á, Enriquez-Guerra MA, Muñóz-Guarneros M, Gálvez-Romero JL, Soto-Santillán P, Cervera R
Calcif Tissue Int 2017 Sep;101(3):291-299. Epub 2017 May 15 doi: 10.1007/s00223-017-0286-z. PMID: 28508265
Miller JA, Bowen A, Morisada MV, Margetis K, Lubelski D, Lieberman IH, Benzel EC, Mroz TE
Spine J 2015 Oct 1;15(10):2149-56. Epub 2015 May 22 doi: 10.1016/j.spinee.2015.05.026. PMID: 26008684
Gan M, Zou J, Song D, Zhu X, Wang G, Yang H
Acta Radiol 2014 Oct;55(8):985-91. Epub 2013 Nov 26 doi: 10.1177/0284185113511603. PMID: 24280137
Stern D, Njagulj V, Likar B, Pernuš F, Vrtovec T
Osteoporos Int 2013 Apr;24(4):1357-68. Epub 2012 Jul 24 doi: 10.1007/s00198-012-2089-4. PMID: 22825483
Tallroth K, Malmivaara A, Laitinen ML, Savolainen A, Harilainen A
Skeletal Radiol 1995 Jul;24(5):337-40. doi: 10.1007/BF00197061. PMID: 7570153

Clinical prediction guides

García-Carrasco M, Mendoza-Pinto C, León-Vázquez ML, Méndez-Martínez S, Etchegaray-Morales I, Montiel-Jarquín Á, Enriquez-Guerra MA, Muñóz-Guarneros M, Gálvez-Romero JL, Soto-Santillán P, Cervera R
Calcif Tissue Int 2017 Sep;101(3):291-299. Epub 2017 May 15 doi: 10.1007/s00223-017-0286-z. PMID: 28508265
Xiao R, Miller JA, Margetis K, Lubelski D, Lieberman IH, Benzel EC, Mroz TE
Spine J 2016 Jul;16(7):822-32. Epub 2015 Oct 26 doi: 10.1016/j.spinee.2015.10.033. PMID: 26515398
Miller JA, Bowen A, Morisada MV, Margetis K, Lubelski D, Lieberman IH, Benzel EC, Mroz TE
Spine J 2015 Oct 1;15(10):2149-56. Epub 2015 May 22 doi: 10.1016/j.spinee.2015.05.026. PMID: 26008684
Gan M, Zou J, Song D, Zhu X, Wang G, Yang H
Acta Radiol 2014 Oct;55(8):985-91. Epub 2013 Nov 26 doi: 10.1177/0284185113511603. PMID: 24280137
Stern D, Njagulj V, Likar B, Pernuš F, Vrtovec T
Osteoporos Int 2013 Apr;24(4):1357-68. Epub 2012 Jul 24 doi: 10.1007/s00198-012-2089-4. PMID: 22825483

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