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928 Possible Causes for Preaxial Polydactyly

  • Branchio-Oculo-Facial Syndrome

    This is only the second case where preaxial polydactyly has been described in branchio-oculo-facial syndrome.[] She also exhibited a rare feature of preaxial polydactyly. Her brother had a lethal phenotype with multiorgan failure. We also report a novel variant in TFAP2A gene.[] Preaxial polydactyly and white forelock were described in two cases of BOFS. Intelligence is normal, but speech is hypernasal.[]

  • Polydactyly

    Point mutations within the conserved domain associated with preaxial polydactyly Having identified the functional ZRS domain, a total of seven families with preaxial polydactyly[] The proportions of preaxial and postaxial polydactyly types were 74.7% and 25.3%, respectively. In preaxial polydactyly, type I formed the overwhelming majority (95.9%).[] […] or associated with genetic syndromes Preaxial polydactyly type IV (polysyndactyly) Duplication of preaxial digits associated with syndactyly of the extra rays May see broadening[]

  • Kleiner Holmes Syndrome

    polydactyly type I Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I .[] Hallux varus may be closely related to preaxial polydactyly because reports of hallux varus included many cases of preaxial polydactyly.[] A new subtype of the metatarsal type of the medial ray (preaxial) polydactyly of the foot is presented.[]

  • Acro-Pectoral Syndrome

    Heterozygotes have preaxial polydactyly in the hindlimbs, while homozygotes also have tibial hemimelia and preaxial polydactyly in the forelimbs.[] A recently proposed candidate gene for preaxial polydactyly is LMBR1, encoding a novel transmembrane receptor, which may be an upstream regulator of SHH.[] […] feet, and, in V.34 only, preaxial polydactyly in the hands.[]

  • Central Polydactyly of Fingers

    MIM 174200) and polydactyly, preaxial IV (MIM 174700) are allelic, autosomal dominant disorders caused by mutations in the GLI3 gene.[] Extra thumb (thumb duplication or preaxial polydactyly) Duplication of the thumb (preaxial polydactyly) is not usually inherited, generally affects only one hand, and is not[] Broadly speaking, there are three types of polydactyly Postaxial or Ulnar Polydactyly Central Polydactyly Preaxial or Radial Polydactyly Postaxial or Ulnar polydactyly It[]

  • Central Polydactyly of Toes

    […] that the mirror foot represents an extreme form of preaxial polydactyly and they have added this deformity as additional type of preaxial polydactyly. [1] Verghese et al.[] Preaxial Polydactyly of Foot, Report of a Rare Case, Shafa Ortho J. 2014 ; 1(4):e24623. Abstract 0, Shafa Orthopedic Journal.[] polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.[]

  • Hemimelia

    Only 1 of the identical twins had tibial hemimelia, a double metatarsal bone, and preaxial polydactyly.[] The authors report a sporadic case of bilateral tibial hemimelia-preaxial polydactyly-five-fingered hands harboring the same mutation.[] polydactyly, occasionally associated with hand ectrodactyly.This article describes the case of a patient with bilateral tibial hemimelia and left femoral bifurcation.[]

  • Polydactyly of a Biphalangeal Thumb

    Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.[] Preaxial polydactyly is less frequent than postaxial one (but could be more frequent in Caucasians).[] Here we report a female infant with DS and striking unilateral preaxial polydactyly (PPD).[]

  • Crossed Polysyndactyly

    Polydactyly… About us Terms Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: Severe expression of the[] The term Crossed polydactyly refers to postaxial polydactyly of the hands combined with preaxial polydactyly of the feet (Type I) or preaxial polydactyly and the hands combined[] I, OMIM 174400); (2) polydactyly of triphalangeal thumb (polydactyly preaxial II, OMIM 174500); (3) polydactyly of index finger (polydactyly preaxial III, OMIM 174600); ([]

  • Acrocallosal Syndrome

    We report on a girl with frontonasal "dysostosis," callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet.[] It is characterised by moderate to severe mental retardation, hypotonia, agenesis of the corpus callosum and preaxial polydactyly involving both feet and the facial features[] […] unrelated parents presenting the typical features of acrocallosal syndrome (craniofacial dysmorphy, mental deficiency, convulsive disorder, agenesis of corpus callosum, preaxial[]

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