congenital limb deformities

Summary

Summary: Congenital structural deformities of the upper and lower extremities collectively or unspecified.

Top Publications

  1. Testoni S, Gentile A. Arachnomelia in four Italian brown calves. Vet Rec. 2004;155:372 pubmed
  2. Van de Laar I, Dooijes D, Hoefsloot L, Simon M, Hoogeboom J, Devriendt K. Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype. Am J Med Genet A. 2007;143A:2712-5 pubmed
    ..The present observations provide further support to this hypothesis...
  3. Mirkes P. Cell death in normal and abnormal development. Congenit Anom (Kyoto). 2008;48:7-17 pubmed publisher
    ..Therefore, the purpose of this review is to highlight what is known about PCD and teratogen-induced cell death and their relationships to the mechanisms of apoptosis and abnormal development...
  4. Lo Iacono N, Mantero S, Chiarelli A, Garcia E, Mills A, Morasso M, et al. Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects. Development. 2008;135:1377-88 pubmed publisher
    ..ChIP analysis shows that p63 is directly associated with the Dlx5 and Dlx6 promoters. Thus, our data strongly implicate p63 and the Dlx5-Dlx6 locus in a pathway relevant in the aetio-pathogenesis of SHFM...
  5. Mori A, Bruneau B. TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed. Curr Opin Cardiol. 2004;19:211-5 pubmed
    ..This review summarizes recent developments in the study of TBX5 as it relates to congenital heart disease and the pathology of HOS...
  6. Holder Espinasse M, Devisme L, Thomas D, Boute O, Vaast P, Fron D, et al. Pre- and postnatal diagnosis of limb anomalies: a series of 107 cases. Am J Med Genet A. 2004;124A:417-22 pubmed
    ..We are currently undertaking a prospective study, and we will develop a protocol of investigations in the future, depending on the type of the malformation identified...
  7. Hill T, Taketo M, Birchmeier W, Hartmann C. Multiple roles of mesenchymal beta-catenin during murine limb patterning. Development. 2006;133:1219-29 pubmed
    ..Mesenchymal beta-catenin activity is therefore required for AER maintenance, and for normal expression of Lmx1b and Emx2...
  8. Rinne T, Brunner H, van Bokhoven H. p63-associated disorders. Cell Cycle. 2007;6:262-8 pubmed
    ..In this article we will present an overview of diseases caused by mutations in the p63 gene and review the known pathogenic p63 gene mutations...
  9. Furniss D, Critchley P, Giele H, Wilkie A. Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. Am J Med Genet A. 2007;143A:3150-60 pubmed
    ..c) 2007 Wiley-Liss, Inc...

More Information

Publications62

  1. Caronia G, Goodman F, McKeown C, Scambler P, Zappavigna V. An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. Development. 2003;130:1701-12 pubmed
  2. Johnson P, Sutherland D. Amphibian deformities and Ribeiroia infection: an emerging helminthiasis. Trends Parasitol. 2003;19:332-5 pubmed
    ..pesticides, nutrient run-off, introduced fishes) might be interacting with Ribeiroia, resulting in elevated infection levels, and we highlight the need for studies incorporating multiple stressor dynamics to further explore this problem...
  3. Celli J, van Bokhoven H, Brunner H. Feingold syndrome: clinical review and genetic mapping. Am J Med Genet A. 2003;122A:294-300 pubmed
  4. Merlo G, Paleari L, Mantero S, Genova F, Beverdam A, Palmisano G, et al. Mouse model of split hand/foot malformation type I. Genesis. 2002;33:97-101 pubmed
    ..This is the first evidence that the role of dll/Dlx genes in appendage development is conserved from insects to mammals and proves their involvement in SHFM1...
  5. Knezevic V, De Santo R, Schughart K, Huffstadt U, Chiang C, Mahon K, et al. Hoxd-12 differentially affects preaxial and postaxial chondrogenic branches in the limb and regulates Sonic hedgehog in a positive feedback loop. Development. 1997;124:4523-36 pubmed
    ..Together these results suggest that certain 5' Hoxd genes directly amplify the posterior Shh polarizing signal in a reinforcing positive feedback loop during limb bud outgrowth...
  6. Ngo Muller V, Muneoka K. Influence of FGF4 on digit morphogenesis during limb development in the mouse. Dev Biol. 2000;219:224-36 pubmed
    ..Finally, we discuss the relationship between the digit IV bifurcation restriction and the placement of the metapterygial axis in the evolution of the tetrapod limb...
  7. Del Campo M, Jones M, Veraksa A, Curry C, Jones K, Mascarello J, et al. Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster. Am J Hum Genet. 1999;65:104-10 pubmed
  8. Yang A, Schweitzer R, Sun D, Kaghad M, Walker N, Bronson R, et al. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature. 1999;398:714-8 pubmed
    ..Taken together, our results indicate that p63 is critical for maintaining the progenitor-cell populations that are necessary to sustain epithelial development and morphogenesis...
  9. Mills A, Zheng B, Wang X, Vogel H, Roop D, Bradley A. p63 is a p53 homologue required for limb and epidermal morphogenesis. Nature. 1999;398:708-13 pubmed
    ..Thus, in contrast to p53, p63 is essential for several aspects of ectodermal differentiation during embryogenesis...
  10. Johnson K, Cook S, Zheng Q. The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndrome. Mamm Genome. 1998;9:889-92 pubmed
    ..The genetic relationships described here will aid in positional cloning efforts to identify the genes responsible for the disparate phenotypes associated with the sy locus...
  11. Goodman F, Majewski F, Collins A, Scambler P. A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. Am J Hum Genet. 2002;70:547-55 pubmed
    ..They also suggest that there is a regulatory region, upstream of the HOXD cluster, that is responsible for activating the cluster as a whole...
  12. Johnson C, Zucker R, Hunter E, Sulik K. Perturbation of retinoic acid (RA)-mediated limb development suggests a role for diminished RA signaling in the teratogenesis of ethanol. Birth Defects Res A Clin Mol Teratol. 2007;79:631-41 pubmed
    ..A proposed mechanism for ethanol teratogenicity entails ethanol-mediated reductions in retinoic acid (RA). This premise was investigated utilizing a mouse model, with limb reduction defects as the teratogenic end point...
  13. Qaiser R, Scott R, Smith E. Identification of an association between Robinow syndrome and moyamoya. Pediatr Neurosurg. 2009;45:69-72 pubmed publisher
    ..The clinical, radiographic, and surgical findings are described, as well as the importance of this association...
  14. Grothe R, Anderson Cermin C, Beiraghi S. Autosomal recessive Robinow syndrome: a case report. J Dent Child (Chic). 2008;75:48-54 pubmed
    ..Of special interest was the extent to which the patient's hyperplastic gingival tissues impeded both normal tooth eruption and orthodontic tooth movement...
  15. Howard P, Howard T, Maurer R. Generation of mice with a conditional allele for Ift172. Transgenic Res. 2010;19:121-6 pubmed publisher
    ..We have confirmed the phenotype of the disrupted allele by using CRE expression directed by the prx1 enhancer to disrupt the conditional Ift172 allele in the developing limb...
  16. Dittmer K, Thompson K, Blair H. Pathology of inherited rickets in Corriedale sheep. J Comp Pathol. 2009;141:147-55 pubmed publisher
  17. Pinter R, Hogge W, McPherson E. Infant with severe penicillamine embryopathy born to a woman with Wilson disease. Am J Med Genet A. 2004;128A:294-8 pubmed
    ..The etiology of the severe outcome in this boy is unclear, but prenatal measurement of maternal copper and zinc levels may be indicated for management...
  18. Harrelson Z, Kelly R, Goldin S, Gibson Brown J, Bollag R, Silver L, et al. Tbx2 is essential for patterning the atrioventricular canal and for morphogenesis of the outflow tract during heart development. Development. 2004;131:5041-52 pubmed
  19. Balci S, Leblebicioglu G, Yiğitkanli I. A new case of omphalocele with absence of thumb. Turk J Pediatr. 2005;47:95-7 pubmed
    ..The etiology is still unknown. In this paper a new case of omphalocele with absence of the right thumb in a five-year-old boy is reported. A common etiology and a new terminology for this combination are suggested...
  20. Maatouk D, Choi K, Bouldin C, Harfe B. In the limb AER Bmp2 and Bmp4 are required for dorsal-ventral patterning and interdigital cell death but not limb outgrowth. Dev Biol. 2009;327:516-23 pubmed publisher
    ..Our data suggests that AER expression of Bmp2 and Bmp4 is required for digit and dorsal-ventral patterning but surprisingly not for limb outgrowth...
  21. Rodriguez A, Sanz E, de Mercado E, Gomez E, Martin M, Carrascosa C, et al. Reproductive consequences of a reciprocal chromosomal translocation in two Duroc boars used to provide semen for artificial insemination. Theriogenology. 2010;74:67-74 pubmed publisher
    ..In conclusion, the boars carrying the translocation rcp(1;11)(q-;p+) showed reduced reproductive performance...
  22. Brockmann K, Backes H, Auber B, Kriebel T, Stellmer F, Zoll B. Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia. Am J Med Genet A. 2009;149A:2832-7 pubmed publisher
    ..Intrauterine environmental factors including vascular insufficiency, high maternal fever, and drug abuse are likely to play a crucial role in the pathogenesis of this condition...
  23. Kahrom M, Abbaszadegan M, Kahrom H, Vakili R. Nager's acrofacial dysostosis with hypertrophic cardiomyopathy. Saudi Med J. 2006;27:1578-81 pubmed
  24. Hunter A. Is multicenter collaborative research in clinical genetics dead and, if so, what killed it?. Am J Med Genet A. 2005;134:237-9 pubmed
    ..Factors that are thought to have contributed to the failure are discussed, in the hope that others can avoid some of the pitfalls...
  25. Stephens T. The effect of thalidomide in chicken embryos. Birth Defects Res A Clin Mol Teratol. 2009;85:725-31 pubmed publisher
    ..Thalidomide affects the chick limb grafted to a host embryo in a dose response fashion. Furthermore, S-thalidomide and S-EM12 are more teratogenic than R-thalidomide and R-EM12...
  26. Stattin E, Lindén B, Lönnerholm T, Schuster J, Dahl N. Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene. Eur J Med Genet. 2009;52:297-302 pubmed publisher
    ..This domain is of importance for the interaction between IHH and the Patched receptor. Our combined findings add radiological findings to the BDA1 phenotype and confirm a critical functional domain of IHH...
  27. Mundlos S. The brachydactylies: a molecular disease family. Clin Genet. 2009;76:123-36 pubmed
    ..Groups of diseases that show a common phenotypic pattern due to the deregulation of a molecular network are suggested to be called molecular disease families...
  28. Ovchinnikov D, Selever J, Wang Y, Chen Y, Mishina Y, Martin J, et al. BMP receptor type IA in limb bud mesenchyme regulates distal outgrowth and patterning. Dev Biol. 2006;295:103-15 pubmed
    ..These findings suggest that signaling through BMPR-IA in limb mesenchyme is essential for distal outgrowth and also influences AP and DV patterning...
  29. Verrotti C, Benassi G, Piantelli G, Magnani C, Giordano G, Gramellini D. Acrofacial dysostosis syndromes: a relevant prenatal dilemma. A case report and brief literature review. J Matern Fetal Neonatal Med. 2007;20:487-90 pubmed
    ..We report the sonographic and clinical features of an AFD fetus with predominantly pre-axial forms. We made a prenatal diagnosis of Nager syndrome but postnatal examination showed post-axial defects previously undetectable by ultrasound...
  30. Jacyk W, La Cock A. Squamous cell carcinoma arising in CHILD syndrome. J Eur Acad Dermatol Venereol. 2006;20:311-3 pubmed
    ..The first case of squamous cell carcinoma arising within the affected ichthyosiform skin in a 33-year-old woman is reported...
  31. Kidner G, Taylor J, Patton M, Taylor N. A suspected case of Abruzzo-Erickson syndrome. Cleft Palate Craniofac J. 2004;41:565-7 pubmed
    ..A case report of an adult female suspected to have this condition is described and illustrated. The possible link to Abruzzo-Erickson syndrome and differential diagnosis of CHARGE is discussed...
  32. Lertsirivorakul J, Hall R. Solitary median maxillary central incisor syndrome occurring together with oromandibular-limb hypogenesis syndrome type 1: a case report of this previously unreported combination of syndromes. Int J Paediatr Dent. 2008;18:306-11 pubmed publisher
    ..This syndrome has been recorded in association with many other midline developmental anomalies and several known syndromes. Its presence, together with oromandibular-limb hypogenesis syndrome type 1, has not previously been reported...
  33. Zhou F, Leder P, Zuniga A, Dettenhofer M. Formin1 disruption confers oligodactylism and alters Bmp signaling. Hum Mol Genet. 2009;18:2472-82 pubmed publisher
    ..Additionally, these studies show enhanced activity downstream of the Bmp receptor in cells where Fmn1 is perturbed, suggesting a role for Fmn1 in repression of Bmp signaling...
  34. Fernandez T, García González I, Mason C, Hernández Zaragoza G, Ledezma Rodríguez V, Anguiano Alvarez V, et al. Molecular characterization of a patient with 3p deletion syndrome and a review of the literature. Am J Med Genet A. 2008;146A:2746-52 pubmed publisher
  35. Nimmo G, Monsonego S, Descartes M, Franklin J, Steinberg S, Braverman N. Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1. Am J Med Genet A. 2010;152A:1812-7 pubmed publisher
    ..This first description of RCDP caused by UPD dramatically changes the parental recurrence risk, highlighting the value of obtaining parental genotypes when the proband has a putative homozygous mutation by sequence analysis...
  36. Bower C, Miller M, Payne J, Serna P. Folate intake and the primary prevention of non-neural birth defects. Aust N Z J Public Health. 2006;30:258-61 pubmed
    ..To investigate whether maternal periconceptional folate intake is associated with a reduction in selected non-neural birth defects in Western Australia (WA)...
  37. de Macena Sobreira N, Alves M, Alvarez Perez A, Brunoni D, Cernach M. Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis. Clin Dysmorphol. 2008;17:145-8 pubmed publisher
    ..The child also had small kidneys bilaterally, rectal atresia and an absent anus with rectovaginal fistula. These clinical findings suggest a new form of acrofacial dysostosis...
  38. Cicero D, Falconi M, Candi E, Mele S, Cadot B, Di Venere A, et al. NMR structure of the p63 SAM domain and dynamical properties of G534V and T537P pathological mutants, identified in the AEC syndrome. Cell Biochem Biophys. 2006;44:475-89 pubmed
  39. Thompson K, Blair H, Linney L, West D, Byrne T. Inherited chondrodysplasia in Texel sheep. N Z Vet J. 2005;53:208-12 pubmed
    ..The disease showed variable expression and occurred in crossbred sheep. A genetic aetiology was supported by the birth of affected lambs over two seasons in a flock of putative carrier and affected sheep transported to Massey University...
  40. Agerholm J, Peperkamp K. Familial occurrence of Danish and Dutch cases of the bovine brachyspina syndrome. BMC Vet Res. 2007;3:8 pubmed
    ..Three cases are reported and compared to the originally reported case...
  41. Toka O, Maass P, Aydin A, Toka H, Hubner N, Ruschendorf F, et al. Childhood hypertension in autosomal-dominant hypertension with brachydactyly. Hypertension. 2010;56:988-94 pubmed publisher
    ..Once the diagnosis is made, we recommend treatment of all individuals with stage 2 hypertension according to the current European and US guidelines on hypertension in children and adolescents...
  42. Dawani N, Al Madhoob A, Ali F, Shabib F. Fryns syndrome: a case associated with karyotype XO. Ann Saudi Med. 2004;24:129-32 pubmed
  43. Franceschini P, Licata D, Guala A, Gaglioti P, Botta G, Gianotti G, et al. Cerebro-reno-digital (Meckel-like) syndrome with limb malformations and acetabular spurs in two sibs: a new MCA syndrome?. Am J Med Genet A. 2004;131:213-5 pubmed
  44. Malik S, Percin F, Ahmad W, Percin S, Akarsu N, Koch M, et al. Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3. Am J Med Genet A. 2005;134:404-8 pubmed
  45. Ounap K, Ilus T, Bartsch O. A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome. Am J Med Genet A. 2005;134:434-8 pubmed
    ..Our findings lend support to distal chromosome 3q, or chromosome 3q26.3, comprises the critical area for the dup(3q) phenotype resembling the BDLS...
  46. Stricker S, Verhey van Wijk N, Witte F, Brieske N, Seidel K, Mundlos S. Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. Dev Dyn. 2006;235:3456-65 pubmed
    ..Overexpression of Ror2 mutants led to a disturbance of growth plate architecture and a severe block of chondrocyte differentiation, demonstrating the functional importance of Ror2 in skeletogenesis...
  47. Kellermayer R, Siitonen H, Hadzsiev K, Kestila M, Kosztolanyi G. A patient with Rothmund-Thomson syndrome and all features of RAPADILINO. Arch Dermatol. 2005;141:617-20 pubmed
    ..While many features of the 2 genetic disorders overlap, poikiloderma--a hallmark of RTS--has been described as generally absent in RAPADILINO syndrome...
  48. Toyoshima M, Yonee C, Maegaki Y, Yamamoto T, Shimojima K, Maruyama S, et al. Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome. Am J Med Genet A. 2009;149A:1722-6 pubmed publisher
    ..Once clinical diagnosis of this chromosome aberration is established, radiologic evaluation of vertebrae and spinal neuroimaging should be performed...
  49. Courtens W, Jespers A, Harrewijn I, Puylaert D, Vanhoenacker F. Fibular aplasia, tibial campomelia, and oligosyndactyly in a male newborn infant: a case report and review of the literature. Am J Med Genet A. 2005;134:321-5 pubmed
    ..Therefore, we propose to name it fibular aplasia-tibial campomelia-oligosyndactyly (FATCO) syndrome. Additional case reports are needed for further delineation of this rare limb deficiency syndrome...
  50. Tsuchiya Y, Sueishi K, Yatabe K, Yamaguchi H. A case of Antley-Bixler syndrome with severe skeletal Cl. III malocclusion. Bull Tokyo Dent Coll. 2004;45:87-93 pubmed
    ..We planned a non-surgical treatment to expand the maxilla. It will be necessary to continually consider the treatment of his malocclusion as he continues to grow...
  51. Avcu S, Akgun C, Temel H, Arslan S, Akbayram S, Unal O. Report of a girl with vacterl syndrome and right pulmonary agenesis. Genet Couns. 2009;20:379-83 pubmed
    ..In the present patient right pulmonary agenesis is co-occurring with VACTERL syndrome. We report on this case because the association of right pulmonary agenesis and VACTERL syndrome is rare...
  52. Banhidy F, Acs N, Horvath Puho E, Czeizel A. Maternal severe migraine and risk of congenital limb deficiencies. Birth Defects Res A Clin Mol Teratol. 2006;76:592-601 pubmed
    ..Therefore, we examined the risk of congenital abnormalities in infants born to women who had migraines and other headaches during pregnancy...
  53. Liu M, Luan C. [Research on the causes of physical disabilities among children aged 0 - 14, in China]. Zhonghua Liu Xing Bing Xue Za Zhi. 2008;29:1083-6 pubmed
    ..To understand the present situation and the changes on causes of physical disabilities among children aged 0 - 14 years for the past 20 years in China...