Congenital absence of the cruciate ligaments

Berruto, Massimo; Gala, Luca; Usellini, E.; Duci, D.; Marelli, B

doi:10.1007/s00167-011-1816-2

Cited by 21 publications

(13 citation statements)

References 24 publications

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“…Of note, there are no reported cases of an isolated PCL deficiency [16]. With absence of the ACL, the intercondylar notch and the tibial spines fail to develop since they lack the stimuli to grow [2]. Based on these findings, Manner [13] described a classification of the three main types of dysplasia: I) hypoplasia or aplasia of the ACL with a normal PCL, II) aplasia of the ACL and hypoplasia of the PCL, and III) aplasia of both cruciate ligaments.…”

Section: Discussionmentioning

confidence: 99%

Ligament Reconstruction in Congenital Absence of the Anterior Cruciate Ligament

Chahla

Pascual‐Garrido

Rodeo

2015

HSS Journal®: The Musculoskeletal Journal of Hospital for Speci

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Section: Discussionmentioning

confidence: 99%

Ligament Reconstruction in Congenital Absence of the Anterior Cruciate Ligament

Chahla

Pascual‐Garrido

Rodeo

2015

HSS Journal®: The Musculoskeletal Journal of Hospital for Speci

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“…Congenital absence of the anterior (ACL)/posterior cruciate ligaments (PCL) is an extremely unusual condition with a prevalence of 1.7 per 100,000 live births and was first reported in 1956 in a radiographic study of the knee [ 1 – 3 ]. The symptom of this disease usually associated with serious malformation or dislocation of the knees.…”

Section: Introductionmentioning

confidence: 99%

Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

Liu

March

et al. 2015

Hum Genomics

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BackgroundAbsence of the anterior (ACL) or posterior cruciate ligament (PCL) are rare congenital malformations that result in knee joint instability, with a prevalence of 1.7 per 100,000 live births and can be associated with other lower-limb abnormalities such as ACL agnesia and absence of the menisci of the knee. While a few cases of absence of ACL/PCL are reported in the literature, a number of large familial case series of related conditions such as ACL agnesia suggest a potential underlying monogenic etiology. We performed whole exome sequencing of a family with two individuals affected by ACL/PCL.ResultsWe identified copy number variation (CNV) deletion impacting the exon sequences of CEP57L1, present in the affected mother and her affected daughter based on the exome sequencing data. The deletion was validated using quantitative PCR (qPCR), and the gene was confirmed to be expressed in ACL ligament tissue. Interestingly, we detected reduced expression of CEP57L1 in Epstein–Barr virus (EBV) cells from the two patients in comparison with healthy controls. Evaluation of 3D protein structure showed that the helix-binding sites of the protein remain intact with the deletion, but other functional binding sites related to microtubule attachment are missing. The specificity of the CNV deletion was confirmed by showing that it was absent in ~700 exome sequencing samples as well as in the database of genomic variations (DGV), a database containing large numbers of annotated CNVs from previous scientific reports.ConclusionsWe identified a novel CNV deletion that was inherited through an autosomal dominant transmission from an affected mother to her affected daughter, both of whom suffered from the absence of the anterior and posterior cruciate ligaments of the knees.Electronic supplementary materialThe online version of this article (doi:10.1186/s40246-015-0053-z) contains supplementary material, which is available to authorized users.

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“…Congenital bilateral ACL aplasia, hypoplasia, and elongation can be identified through MRI and is associated with bone and soft tissue disorders of the lower extremity [41,42]. Type IV EDS, although not documented to be specifically associated with congenital bilateral ACL insufficiency, manifests clinically with notable joint laxity [43].…”

Section: Discussionmentioning

confidence: 99%

Revision pediatric anterior cruciate ligament reconstruction after failure of iliotibial band technique treated with all-epiphyseal technique in a prepubescent with Ehlers–Danlos syndrome: a case report

Erdman

Warnick

2017

Journal of Pediatric Orthopaedics B

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The increasing number of pediatric anterior cruciate ligament (ACL) injuries and the failure of nonoperative management of these patients has elicited a concordant response in the surgical community to devise reconstruction techniques that stabilize the knee joint without causing iatrogenic growth disturbances. Likewise, the rise in pediatric ACL reconstructions forecasts a consequent rise in revision ACL reconstructions in patients with open physes. In this case report, we describe a prepubescent with Ehlers-Danlos syndrome and congenital ACL deficiency, who underwent physeal-sparing iliotibial band ACL reconstruction and revision to an all-epiphyseal ACL reconstruction with allograft. We also underscore the lack of evidence addressing graft choice and outcomes for ACL reconstructions in patients with connective tissue disorders.

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Congenital absence of the cruciate ligaments

Cited by 21 publications

References 24 publications

Ligament Reconstruction in Congenital Absence of the Anterior Cruciate Ligament

Ligament Reconstruction in Congenital Absence of the Anterior Cruciate Ligament

Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

Revision pediatric anterior cruciate ligament reconstruction after failure of iliotibial band technique treated with all-epiphyseal technique in a prepubescent with Ehlers–Danlos syndrome: a case report

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