Preaxial polydactyly: interactions among ETV, TWIST1 and HAND2 control anterior-posterior patterning of the limb

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Preaxial polydactyly: interactions among ETV, TWIST1 and HAND2 control anterior-posterior patterning of the limb.

Preaxial polydactyly (PPD) is a common limb-associated birth defect characterized by extra digit(s) in the anterior autopod. It often results from ectopic sonic hedgehog (Shh) expression in the anterior limb bud. Although several transcription factors are known to restrict Shh expression to the posterior limb bud, how they function together remains unclear. Here we provide evidence from mouse c...

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Preaxial polydactyly of the foot

Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes. In order to give guidelines for diagnostics and referral to a clinical geneticist, we provide an overview of the presentation using a literature review and our own patient population. Patients and methods - The literature review wa...

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An unusual case of preaxial polydactyly of the hand

Preaxial polydactyly is the most common duplication pattern in white and Asian populations (1). It is a congenital anomaly with a wide range of manifestations .Current classification do not have the capacity to classify all different types of radial polydactyly. We describe here a very rare and unusual case of bilateral preaxial polydactyly (triplication) in a woman and report the operations re...

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Anterior-Posterior Patterning of the Avian Neuraxis

Nieuwkoop and Nigtevecht’s (1954) model of anterior-posterior patterning of the neuraxis states that the naive ectoderm first receives an ‘activation’ signal giving it an anterior, neural character and subsequently a ‘transformation’ signal that progressively caudalises the axis resulting in the full rostro-caudal pattern. Stern (2001) proposed a modification to this model that divides the firs...

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Pathogenesis of preaxial polydactyly of the hand in human embryos.

Hand plates with preaxial polydactyly from 13 human embryos of the Carnegie stages 17-23 were examined macro- and microscopically. Morphological features in early pathogenesis of preaxial polydactyly are (1) an abnormal extension and a delayed involution of the apical ectodermal ridge on the preaxial border of the hand plate in stages 17 and 18, (2) a precocious development of an interdigital n...

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ژورنال

عنوان ژورنال: Development

سال: 2010

ISSN: 1477-9129,0950-1991

DOI: 10.1242/dev.051789