Radiographic evaluation and unusual bone formations in different genetic patterns in synpolydactyly

Yücel, Aylin; Kuru, İlhami; Bozan, M. Eray; Açar, Murat; Solak, Mustafa

doi:10.1007/s00256-005-0928-5

Cited by 19 publications

(7 citation statements)

References 17 publications

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“…infra) in the syndactylous web. 31 Most syndactylies are isolated and bilateral. They occur sporadically, usually with an autosomal dominant inheritance pattern, and may also involve the feet in some cases.…”

Section: Syndactylymentioning

confidence: 99%

“…Also known as "mirror hand," ulnar dimelia is an extremely rare congenital disorder of the upper limb, with 60 cases reported in the literature so far. 29,[31][32][33][34][35][36][37][38][39] This condition is characterized by duplication of the ulna, absence of preaxial structures (radius, radial carpal bones, and preaxial fingers), and postaxial polydactyly, with a variable degree of symmetry across the midline (►Fig. 10).…”

Section: Ulnar Dimeliamentioning

confidence: 99%

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Congenital Malformations of the Hand and Forearm in Children: What Radiologists Should Know

Aucourt

Budzik

Manouvrier‐Hanu

et al. 2012

Semin Musculoskelet Radiol

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Congenital upper limb malformations represent complex pathologies because of their varied clinical presentations, imaging features, and etiologies. They can be divided into (1) failure of formation with transverse, intercalary, and longitudinal (preaxial, postaxial, and mesoaxial) deficiencies, (2) failure of differentiation with synostoses, carpal coalitions, syndactylies, and symphalangism, (3) duplication with ulnar dimelia and polydactylies, and (4) brachydactylies. Congenital Madelung's deformity, clinodactyly, camptodactyly, and Kirner's deformity are usually included in these malformations. Despite advances in molecular diagnosis, a good knowledge of clinical and imaging features as well as special consideration of other skeletal or nonskeletal abnormalities are essential to eventually diagnose an embryo fetopathy (maternal valproate treatment, constriction band syndrome), a genetic disorder (trisomy 21 or Down syndrome, Turner's syndrome, Holt-Oram syndrome), or a nongenetic syndrome (vertebral, anal, cardiac, tracheal, esophageal, renal, limb association, Poland's syndrome). Genetic counseling for a child presenting with a congenital upper limb malformation is of great value, both for the treating team and the parents, and imaging is often required. The latter is still largely supported by conventional radiography, both for diagnosis and functional prognosis, but ultrasound and magnetic resonance imaging will be great tools in the near future to better evaluate these conditions.

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Section: Syndactylymentioning

confidence: 99%

Section: Ulnar Dimeliamentioning

confidence: 99%

Congenital Malformations of the Hand and Forearm in Children: What Radiologists Should Know

Aucourt

Budzik

Manouvrier‐Hanu

et al. 2012

Semin Musculoskelet Radiol

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“…1 It consists of a triangular bone with a c-shaped epiphysis extending along the shorter side of the phalanx preventing the normal longitudinal growth of the digit and causing progressive angulation and shortening of the affected finger. [2][3][4][5] Defective primary ossification centre during the embryonic period is considered the cause behind the abnormal configuration. 2,6 Delta phalanx most commonly involves the tubular bones of hands and feet such as the phalanges, first metacarpal and first metatarsal bones.…”

Section: Discussionmentioning

confidence: 99%

“…[2][3][4][5] Defective primary ossification centre during the embryonic period is considered the cause behind the abnormal configuration. 2,6 Delta phalanx most commonly involves the tubular bones of hands and feet such as the phalanges, first metacarpal and first metatarsal bones. 7 Usually single delta phalanx is seen, however in our case multiple delta phalanges are seen involving bilateral digits of hands.…”

Section: Discussionmentioning

confidence: 99%

Bilateral proximal delta phalanges of hand: a rare case report with review of literature

Kocherla

2015

Int J Res Med Sci

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Delta phalanx or longitudinal bracketed epiphysis is a rare congenital anomaly that affects phalanges in the hand more commonly than toes. It results from a defective secondary ossification that extends longitudinally along the diaphysis and brackets the diaphysis and metaphysis, causing restricted longitudinal growth and resultant angular deformities. Although rare, longitudinal epiphyseal bracket most commonly manifests in the hands as clinodactyly and in the feet as hallux varus. We report a case of 18 year old male patient with isolated bilateral multiple proximal delta phalanges of hand.

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“…Missense mutations within the homeodomain of HOXD13 result in a loss of function that leads to brachydactyly type D (BDD, MIM 113200) or to brachydactyly type E (BDE, MIM 113300). Expansion (Akarsu et al 1996;Muragaki et al 1996;Goodman et al 1997) and, in few cases, frameshift deletions (Goodman et al 1998;Calabrese et al 2000) of the polyalanine tract in exon 1 of HOXD13 trigger synpolydactyly (SPD, MIM 186000), a semidominant limb malformation syndrome characterized by digit duplication and fusion in heterozygotes and a combination of syndactyly, polydactyly, and shortening of the hands and feet in homozygotes (Caronia et al 2003;Yucel et al 2005).…”

mentioning

confidence: 99%

Fork Stalling and Template Switching As a Mechanism for Polyalanine Tract Expansion Affecting the DYC Mutant of HOXD13, a New Murine Model of Synpolydactyly

et al. 2009

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Polyalanine expansion diseases are proposed to result from unequal crossover of sister chromatids that increases the number of repeats. In this report we suggest an alternative mechanism we put forward while we investigated a new spontaneous mutant that we named ''Dyc'' for ''Digit in Y and Carpe'' phenotype. Phenotypic analysis revealed an abnormal limb patterning similar to that of the human inherited congenital disease synpolydactyly (SPD) and to the mouse mutant model Spdh. Both human SPD and mouse Spdh mutations affect the Hoxd13 gene within a 15-residue polyalanine-encoding repeat in the first exon of the gene, leading to a dominant negative HOXD13. Genetic analysis of the Dyc mutant revealed a trinucleotide expansion in the polyalanine-encoding region of the Hoxd13 gene resulting in a 7-alanine expansion. However, unlike the Spdh mutation, this expansion cannot result from a simple duplication of a short segment. Instead, we propose the fork stalling and template switching (FosTeS) described for generation of nonrecurrent genomic rearrangements as a possible mechanism for the Dyc polyalanine extension, as well as for other polyalanine expansions described in the literature and that could not be explained by unequal crossing over.

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Radiographic evaluation and unusual bone formations in different genetic patterns in synpolydactyly

Abstract: The existence and variety of unusual bones may indicate the severity of penetrance and expressivity of SPD.

Cited by 19 publications

References 17 publications

Congenital Malformations of the Hand and Forearm in Children: What Radiologists Should Know

Congenital Malformations of the Hand and Forearm in Children: What Radiologists Should Know

Bilateral proximal delta phalanges of hand: a rare case report with review of literature

Fork Stalling and Template Switching As a Mechanism for Polyalanine Tract Expansion Affecting the DYC Mutant of HOXD13, a New Murine Model of Synpolydactyly

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