The Epidemiology, Genetics and Future Management of Syndactyly

Jordan, Daniel J; Hindocha, Sandip; Dhital, M; Saleh, Mahasen; Khan, Waqas Imran

doi:10.2174/1874325001206010014

Cited by 68 publications

(93 citation statements)

References 127 publications

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“…Reports suggest that ODDD is likely to occur in white families, as with this patient and her family. [1][2][3][4][5] The name ODDD describes the systems affected: eyes, teeth, and digits. Characteristic facial features are a narrow, pinched nose, hypoplastic nasal alae, thinly anteverted nares with a narrow nasal bridge, and prominent epicanthal folds that yield a heterogeneous presentation of hypotelorism or hypertelorism.…”

Section: Discussionmentioning

confidence: 99%

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A case of familial syndactyly associated with eye and dental abnormalities

Mills

Wheeler

Oishi

2015

Journal of the American Academy of Physician Assistants

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Section: Discussionmentioning

confidence: 99%

“…6 Syndactyly occurs in 1 in 2,000 live births and is more common in white children. 1,2 Boys are affected more than girls. Upper limb development occurs between 5 and 7 weeks of gestation.…”

Section: Key Pointsmentioning

confidence: 99%

A case of familial syndactyly associated with eye and dental abnormalities

Mills

Wheeler

Oishi

2015

Journal of the American Academy of Physician Assistants

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“…Estetik ve fonksiyonel olumsuz sonuçları olan embriyolojik bir anomalidir (1). İkibin canlı doğumda bir görülme oranı ile konjential el deformiteleri içerisinde en sık rastlanılan ve gestasyonel 7 ve 8. haftalarda apendiküler apoptoz bozukluğu sonucu oluşan yumuşak doku ve kemiklerdeki füzyon bozukluğunun olduğu bir deformitedir (2).…”

Section: Introductionunclassified

“…Literaratürde sıklıkla kullanılan sınıflama basit ya da kompleks sindaktilinin; komplet yada inkomplet görülmesi şeklinde düzenlenmesine karşın bu sınıflamanın pek çok tipi tanımlamada yetersiz olduğu görülmüştür (1). Akrosindaktili, klindodaktili, sinostoz, yarık el ve polidaktili gibi izole el deformitelerine eşlik edebileceği gibi Apert, Poland's, Pfeiffer, Jackson-Weisss ve Holt-Oram gibi sendromların parçası olarak da bulunabilir (1). 2012 yılında sendromik olmayan sindaktili tipleri fenotipik özellikleri de göz önünde bulundurularak 9 farklı tip ve subtipler olarak yeni bir sınıflama ile literatüre dahil edilmiştir (3).…”

Section: Introductionunclassified

Current Classifications of Syndactyly and A Case Report

Yıldırım¹,

Toğral²,

Aktaş³

et al. 2013

Acta Oncol Tur.

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ÖZETSindaktili; 2000 canlı doğumda bir görülme oranı ile konjential el deformiteleri içerisinde en sık rastlanılan ve literatür-de tanımlanma zamanı eski Yunan hekimlerine kadar uzanan, ancak klinik prezentasyon olarak pek çok farklı şekli bulunması nedeniyle sınıflamalarda uzlaşma sağlanamamış bir deformitedir. Farklı klinik prezentasyonlar ve eşlik eden diğer durumlar nedeni ile 2012 yılında sendromik olmayan sindaktili tipleri fenotipik özellikleri de göz önünde bulundurularak 9 farklı tip ve subtipler olarak yeni bir sınıflama ile literatüre dahil edilmiştir. Vaka sunumumuzdaki 48 yaşındaki ailesel sindaktili öyküsü bulunmayan kadın hastamız, tipik olan 4. parmak hipoplazisi bulunmaması ve 5. parmak orta falanks ve distal falanks üzerinde 2 adet canlı tırnak bulunması ile literatürde nadir görülen bir prezentasyon ile çıkmıştır. Vaka planlaması için yapılan dijital anjiografide tüm vasküler yapılar doğal olarak izlenmiştir. Distalde yeterince veb dokusu bulunan olgumuzda; Yao ve arklarının tanımladığı yöntemle subkutan pedikül üzerinde, V insizyonla cilt kaldırılarak komisür oluşturuldu. Cerrahi sonrası, yara yeri ve dolaşım problemi görülmeyen hastanın; 1 yıllık takibinde ek sorun gözlenmedi. Anahtar Kelimeler: Sindaktili; El; Deformite; Ekstremite cerrahisi ABSTRACT Syndactyly is the most common congenital hand defect, syndactyly occurs at a rate of one in 2000 live births. It had described by the ancient Greek doctors. Syndactyly could have many different clinical presentations; and so that there has not any consensus for the classification. By the year 2012 non syndromic syndactyly types have been classified in nine groups according to their phenotypes. Our article is about a syndactyly case which had seen at a 48 year old female patient with a unique clinical presentation. The presentation of the hand is different from the literature because she had no 4th finger hypoplasia and she had two viable nails on the middle and distal phalanx of the 5th finger. We did the operation by the technique which had described by Yao et al as creating a commissure on the subcutane pedicle by a V incision. There is not any complication and skin problem after the surgery as a one year follow up.

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“…29,30 The strong presence of CKAP2L in the fine processes of the myogenic progenitor cells of E12.5 mouse embryos also suggests a role in the formation of limb muscle. CKAP2L might play a role in the regulation of apoptosis, a critical and important step in the removal of webbing between the digits during development, 31 which is reminiscent of the phenotype of cutaneous syndactyly observed in individuals with Filippi syndrome. The screening of a larger collection of individuals with Filippi syndrome revealed the genetic and clinical heterogeneity of this syndrome.…”

mentioning

confidence: 99%

Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome

Hussain

Battaglia

Szczepanski

et al. 2014

The American Journal of Human Genetics

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Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities. We performed homozygosity mapping and whole-exome sequencing in a Sardinian family with two affected children and identified a homozygous frameshift mutation, c.571dupA (p.Ile191Asnfs(∗)6), in CKAP2L, encoding the protein cytoskeleton-associated protein 2-like (CKAP2L). The function of this protein was unknown until it was rediscovered in mice as Radmis (radial fiber and mitotic spindle) and shown to play a pivotal role in cell division of neural progenitors. Sanger sequencing of CKAP2L in a further eight unrelated individuals with clinical features consistent with Filippi syndrome revealed biallelic mutations in four subjects. In contrast to wild-type lymphoblastoid cell lines (LCLs), dividing LCLs established from the individuals homozygous for the c.571dupA mutation did not show CKAP2L at the spindle poles. Furthermore, in cells from the affected individuals, we observed an increase in the number of disorganized spindle microtubules owing to multipolar configurations and defects in chromosome segregation. The observed cellular phenotypes are in keeping with data from in vitro and in vivo knockdown studies performed in human cells and mice, respectively. Our findings show that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome.

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The Epidemiology, Genetics and Future Management of Syndactyly

Cited by 68 publications

References 127 publications

A case of familial syndactyly associated with eye and dental abnormalities

A case of familial syndactyly associated with eye and dental abnormalities

Current Classifications of Syndactyly and A Case Report

Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome

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