Familial Os Odontoideum

Prasad, Apurva; Shah, Abhidha; Sasane, Sumeet; Goel, Atul

doi:10.1016/j.wneu.2020.06.102

Cited by 4 publications

(5 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is also associated with syndromic abnormalities such as Morquio syndrome, Klippel-Feil syndrome, spondyloepiphyseal dysplasia, metaphyseal dysplasia, Down syndrome and other syndromes with ligamentous laxity 4,11,14,15,[17][18][19] . There have been reports of familial os odontoideum as well as in twins as seen in our database as well as in the literature [6][7][8][9][10]13,20 . In our own database the ages range from 2 to 58 years.…”

Section: Discussionsupporting

confidence: 64%

See 1 more Smart Citation

Os Odontoideum - "MR documented Craniocervical Ligamentous Injury in Early Childhood with delayed formation of Os Odontoideum on Sequential Imaging". Case-based Review and Mini Database Analysis

Menezes

2023

J Orthopedics & Orthopedic Surg

View full text Add to dashboard Cite

The etiology of os odontoideum has been debated ever since its first description by Giacomini in 1886. There are proponents of congenital origin as well as reports of post-traumatic os odontoideum formation after early childhood craniovertebral junction (CVJ) trauma. We document CVJ ligamentous injury on MRI in an 18-month-old child with sequential imaging demonstrating the os odontoid formation. Our database of 260 surgically treated patients with os odontoideum was analyzed regarding etiology and associated abnormalities. The literature (1970-2022) is reviewed.

show abstract

Section: Discussionsupporting

confidence: 64%

“…Ever since its first description in 1886 by Giacomini, the origin has been debated 2 . Numerous case reports and case series show both a possible congenital origin as well as secondary to early craniovertebral junction (CVJ) trauma [3][4][5][6][7][8][9][10][11][12][13] . There is support for both causations.…”

Section: Introductionmentioning

confidence: 99%

Os Odontoideum - "MR documented Craniocervical Ligamentous Injury in Early Childhood with delayed formation of Os Odontoideum on Sequential Imaging". Case-based Review and Mini Database Analysis

Menezes

2023

J Orthopedics & Orthopedic Surg

View full text Add to dashboard Cite

show abstract

“…In addition, it is important to recognize that in congenital syndromic abnormalities, the complication rate, as described in the literature, was 40%, in contrast to 15% in non-syndromic cases ( 33 , 34 ). Numerous case reports document the presence of os odontoideum in families, suggesting a hereditary nature, and in twins ( 10 – 12 , 14 , 26 , 31 , 33 , 35 – 37 ). In the congenital variety, we have recognized that the anterior arch is not hypertrophied, nor is there atrophy of the posterior arch of the atlas.…”

Section: Discussionmentioning

confidence: 99%

“…The gap beneath the os odontoideum can lead to the incompetence of the cruciate ligament and subsequent craniocervical instability. Even though the volume of literature on os odontoideum has been expanding, questions about its etiology remain a topic of debate, despite the occurrence of congenital, familial, and associated abnormalities ( 3 – 14 ). Moreover, early childhood trauma at the craniocervical junction is one of the leading causes of the traumatic formation of os odontoideum ( 3 , 4 , 9 ).…”

Section: Introductionmentioning

confidence: 99%

Os odontoideum: database analysis of 260 patients regarding etiology, associated abnormalities, and literature review

Menezes

2023

Front. Surg.

View full text Add to dashboard Cite

IntroductionSince the first description of os odontoideum in 1886, its origin has been debated. Numerous case series and reports show both a possible congenital origin and origin from the secondary to craniovertebral junction (CVJ) trauma. We conducted a detailed analysis of 260 surgically treated cases to document the initial symptoms, age groups, radiographic findings, and associated abnormalities, aiming to enhance the confirmation of the etiology. A literature search (1970–2022) was performed to correlate our findings.Methods and materialsA total of 260 patients underwent surgical management of a referral database of 520 cases (1978–2022). All patients were examined by plain radiography and myelotomography as needed until 1984, and since then, CT and MRI have been employed. History of early childhood (aged below 6 years) CVJ trauma was investigated, including obtaining emergency department's initial radiographs from the referral and subsequent follow-up. Associated radiographic and systemic abnormalities were noted, and the atlas development was followed.ResultsThe age of the patients ranged from 4 to 68 years, mostly between 10 and 20 years. There were 176 males and 86 females. Orthotopic os odontoideum was identified in 24 patients, and 236 patients had dystopic os odontoideum. Associated abnormalities were found in 94 of 260 patients, with 73 exhibiting syndromic abnormalities and 21 having Chiari I malformation. Two sets of twins had spondyloepiphyseal dysplasia. Of 260 patients, 156 experienced early childhood trauma /. Among these, 54 initially presented with normal radiographs but later demonstrated anterior atlas hypertrophy. In addition, a smaller posterior C1 arch was observed, leading to the development of os odontoideum. Two children had initial CVJ trauma as documented by MRI, with subsequent classical findings of os odontoideum and atlas changes. Syndromic patients had an earlier presentation. The literature reviewed confirms the multifactorial etiology.ConclusionsThe early presentation and associated abnormalities (such as Down syndrome, Klippel–Feil syndrome, Chiari I malformation, spondyloepiphyseal dysplasia, Morquio syndrome, and others) along with case reports documenting familial, hereditary, and twin presentations strongly support a congenital origin. Likewise, surgical complications are more prevalent in syndromic patients (40%) compared to 15% in other cases, as reported in the literature. The documentation of normal odontoid in early childhood trauma cases followed by the later development of os odontoideum provides evidence supporting trauma as an etiological factor. This process also involves vascular changes in both the atlas and the formation of os odontoideum. Associated abnormalities exhibit an earlier presentation and are only seen in cases with a non-traumatic origin.

show abstract

“…[ 46 ] Familial cases of OO with an autosomal dominant pattern of inheritance and case reports of OO in identical twins provide further evidence. [ 47 , 48 , 49 , 50 , 51 ] In addition, a radiological study suggested that a joint between the odontoid and the atlas anterior arch called the “jigsaw sign” is a reliable indicator of congenital etiology for OO. [ 6 , 12 ]…”

Section: Pathophysiologymentioning

confidence: 99%

Os odontoideum

Dahdaleh

Cho

Shlobin

2022

Journal of Craniovertebral Junction and Spine

View full text Add to dashboard Cite

Os odontoideum (OO) is a rare craniocervical anomaly that is characterized by a round ossicle separated from the C2 vertebral body. With a controversial etiology and unknown prevalence in the population, OO may be asymptomatic or present in patients with myelopathic and neurological symptoms. In this literature review, we aimed to investigate epidemiology, embryology, pathophysiology, clinical presentation, and the role of diagnostic radiography in OO. By providing an overview of different management strategies, surgical complications, and postoperative considerations for OO, our findings may guide neurosurgeons in providing proper diagnosis and treatment for OO patients. A literature review was conducted using the PubMed, EMBASE, and Scopus databases. A search using the query “os odontoideum” yielded 4319 results, of which 112 articles were chosen and analyzed for insights on factors such as etiology, clinical presentation, and management of OO. The presentation of OO varies widely from asymptomatic cases to severe neurological deficits. Asymptomatic patients can be managed either conservatively or surgically, while symptomatic patients should undergo operative stabilization. Although multiple studies show different techniques for surgical management involving posterior fusion, the diversity of such cases illustrates how treatment must be tailored to the individual patient to prevent complications. Conflicting studies and the paucity of current literature on OO highlight poor comprehension of the condition. Further understanding of the natural history of OO is critical to form evidence-based guidelines for the management of OO patients. More large-center studies are thus needed to promote accurate management of OO patients with optimal outcomes.

show abstract

Familial Os Odontoideum

Cited by 4 publications

References 12 publications

Os Odontoideum - "MR documented Craniocervical Ligamentous Injury in Early Childhood with delayed formation of Os Odontoideum on Sequential Imaging". Case-based Review and Mini Database Analysis

Os Odontoideum - "MR documented Craniocervical Ligamentous Injury in Early Childhood with delayed formation of Os Odontoideum on Sequential Imaging". Case-based Review and Mini Database Analysis

Os odontoideum: database analysis of 260 patients regarding etiology, associated abnormalities, and literature review

Os odontoideum

Contact Info

Product

Resources

About