Camptodactyly and the 22q11.2 deletion syndrome

Couser, Natario L.; Pande, Chetna; Walsh, Jonathan; Tepperberg, James; Aylsworth, Arthur S.

doi:10.1002/ajmg.a.38029

Cited by 4 publications

(5 citation statements)

References 25 publications

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“…The pathogenesis of camptodactyly is not clear [ 7 , 8 , 9 ]. Although some cases occur sporadically, it has been proven to show an autosomal inheritance pattern [ 7 , 8 ].…”

Section: Discussionmentioning

confidence: 99%

“…The pathogenesis of camptodactyly is not clear [ 7 , 8 , 9 ]. Although some cases occur sporadically, it has been proven to show an autosomal inheritance pattern [ 7 , 8 ]. Malik et al [ 7 ] described a case of a German family with thirteen camptodactyly cases in four generations.…”

Section: Discussionmentioning

confidence: 99%

“…Malik et al [ 7 ] described a case of a German family with thirteen camptodactyly cases in four generations. Couser et al have shown the association between the camptodactyly and deletion of the 22q11.21 chromosome [ 8 ].…”

Section: Discussionmentioning

confidence: 99%

“…The primary cause of camptodactyly is still discussed [ 7 , 8 , 9 ]. Abnormalities in all structures that cross the proximal interphalangeal joint are present in camptodactyly [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

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Camptodactyly: From Embryological Basis to Surgical Treatment

Kloc,

Dzula,

Varga

et al. 2023

Medicina

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Camptodactyly is a relatively rare hand deformity presenting as the proximal interphalangeal joint’s nontraumatic and progressive flexion contracture. Most cases are limited to the fifth finger. The severity and type of camptodactyly should be considered to optimize treatment. Since many structures at the finger base can be involved in the pathogenesis of the deformity, surgical treatment for this particular type of deformity is challenging. This paper aims to bring insight into camptodactyly’s pathogenesis and treatment options. We discuss the indication and pitfalls of surgical treatment options for particular camptodactyly types and present a case of a fourteen-year-old boy who was admitted to our department with proximal interphalangeal joint flexion contracture of the left fifth digit.

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“…The pathogenesis of camptodactyly is not clear [ 7 , 8 , 9 ]. Although some cases occur sporadically, it has been proven to show an autosomal inheritance pattern [ 7 , 8 ].…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…The primary cause of camptodactyly is still discussed [ 7 , 8 , 9 ]. Abnormalities in all structures that cross the proximal interphalangeal joint are present in camptodactyly [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Camptodactyly: From Embryological Basis to Surgical Treatment

Kloc,

Dzula,

Varga

et al. 2023

Medicina

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show abstract

“…Couser et al have shown that there is a link between the appearance of camptodactyly and deletion of the 22q11.21 chromosome. Later on, ten cases of children with 22q11.21 deletion presenting with camptodactyly were described in the literature 9 .…”

Section: Classification and Diagnosismentioning

confidence: 99%

Camptodactyly and Clinodactyly – New Understanding of Known Deformities

Matošević

Lamot

Antičević

2021

ACC

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Camptodactyly and clinodactyly are most commonly considered just cosmetic defects, but they can pose a major diagnostic and therapeutic challenge, mainly because of their apparently similar clinical presentation. For years, experts have been arguing over definitions, descriptions, and therapeutic approaches to these deformities, with some favoring surgical approach, some advocating conservative treatment, while others are prone to use a combination of the aforementioned approaches. This article provides an overview of the current literature on two different entities, with emphasis on differences in clinical presentation and treatment modalities. This may improve the understanding and recognition of these deformities in children, and help the attending physician select the most appropriate therapy for the individual patient.

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Camptodactyly and DiGeorge syndrome: A rare hand anomaly

et al. 2021

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Summary The most common deletion syndrome is 22q11.2 and it effects an estimated 1 in 3000 live births. Major features of this multisystem condition include congenital abnormalities, developmental delay, learning difficulties, immunodeficiency, endocrine anomalies and an array of psychiatric disorders. However, variability in phenotype and severity may cause the diagnosis to be overlooked. Early clinical recognition and treatment of DiGeorge syndrome has been shown to increase early life survival, decrease complications and enhance overall quality of life. Skeletal anomalies are infrequently described in 22q11.2 but a subset of patients exhibit upper and lower limb deformities. We present the case of a 5 year-old girl with bilateral fifth digit camptodactyly caused by a fibrous band, and the surgical management of this condition. The current report adds to the body of evidence that camptodactyly is a rare clinical feature of 22q11.2 deletion syndrome, and may serve as a diagnostic aid in these patients.

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Camptodactyly and the 22q11.2 deletion syndrome

Cited by 4 publications

References 25 publications

Camptodactyly: From Embryological Basis to Surgical Treatment

Camptodactyly: From Embryological Basis to Surgical Treatment

Camptodactyly and Clinodactyly – New Understanding of Known Deformities

Camptodactyly and DiGeorge syndrome: A rare hand anomaly

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