ectromelia

Summary

Summary: Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia.

Top Publications

  1. Assimakopoulos E, Athanasiadis A, Zafrakas M, Dragoumis K, Bontis J. Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies. Clin Exp Obstet Gynecol. 2004;31:151-3 pubmed
  2. Suto J, Wakayama T, Imamura K, Goto S, Fukuta K. High lethality of F1 (Dh/+) male mice from the cross between DDD female and DH (Dh/+) male. Exp Anim. 1996;45:99-101 pubmed
    ..These results suggest the existence of defects in the interaction between the male derived Dh gene and the genetic traits of the DDD female...
  3. Castori M, Silvestri E, Cappellacci S, Binni F, Sforzolini G, Grammatico P. Sirenomelia and VACTERL association in the offspring of a woman with diabetes. Am J Med Genet A. 2010;152A:1803-7 pubmed publisher
  4. Gerard M, Layet V, Costa T, Roumazeilles Y, Chenal P, Cailliez D, et al. Sirenomelia and caudal malformations in two families. Am J Med Genet A. 2012;158A:1801-7 pubmed publisher
    ..Molecular studies are underway in these families and in sporadic cases in our laboratory to explore the genetic basis of sirenomelia in humans...
  5. Orioli I, Amar E, Arteaga Vazquez J, Bakker M, Bianca S, Botto L, et al. Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review. Am J Med Genet C Semin Med Genet. 2011;157C:358-73 pubmed publisher
    ..The application of the new biological network analysis approach, including molecular results, to these associated very rare diseases is suggested for future studies. ..
  6. Browne M, Fitchev P, Adley B, Crawford S. Sirenomelia with an angiomatous lumbosacral myelocystocele in a full-term infant. J Perinatol. 2004;24:329-31 pubmed
    ..In this report, we describe the first case of an infant with sirenomelia and a massive angiomatous lumbosacral myelocystocele...
  7. Tomkins D, Hunter A, Roberts M. Cytogenetic findings in Roberts-SC phocomelia syndrome(s). Am J Med Genet. 1979;4:17-26 pubmed
  8. Galloway J, Delgado I, Ros M, Tabin C. A reevaluation of X-irradiation-induced phocomelia and proximodistal limb patterning. Nature. 2009;460:400-4 pubmed publisher
    ..Moreover, molecular evidence that proximodistal patterning is unaffected after X-irradiation does not support the predictions of the progress zone model...
  9. Zakin L, Reversade B, Kuroda H, Lyons K, De Robertis E. Sirenomelia in Bmp7 and Tsg compound mutant mice: requirement for Bmp signaling in the development of ventral posterior mesoderm. Development. 2005;132:2489-99 pubmed
    ..Sirens result from a fusion of the hindlimb buds caused by a defect in the formation of ventral mesoderm...

More Information

Publications62

  1. Gordillo M, Vega H, Trainer A, Hou F, Sakai N, Luque R, et al. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet. 2008;17:2172-80 pubmed publisher
    ..In summary, we provide the first evidence that loss of acetyltransferase activity contributes to the pathogenesis of RBS, underscoring the essential role of the enzymatic activity of the Eco1p family of proteins...
  2. Woods C, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, et al. Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am J Hum Genet. 2006;79:402-8 pubmed
    ..These findings illustrate the specific and conserved importance of WNT7A in multiple aspects of vertebrate limb development...
  3. Deardorff M, Wilde J, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, et al. RAD21 mutations cause a human cohesinopathy. Am J Hum Genet. 2012;90:1014-27 pubmed publisher
    ..These results underscore the essential role of RAD21 in eukaryotes and emphasize the need for further understanding of the role of cohesin in human development...
  4. Schule B, Oviedo A, Johnston K, Pai S, Francke U. Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. Am J Hum Genet. 2005;77:1117-28 pubmed
  5. Bose T, Lee K, Lu S, Xu B, Harris B, Slaughter B, et al. Cohesin proteins promote ribosomal RNA production and protein translation in yeast and human cells. PLoS Genet. 2012;8:e1002749 pubmed publisher
    ..Reduced translational capacity could contribute to the human cohesinopathies...
  6. Kjaer K, Keeling J, Opitz J, Gilbert Barness E, Hartling U, Hansen B, et al. Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia. Am J Med Genet A. 2003;120A:503-8 pubmed
    ..There was a correlation between the ISD and the BD values; the higher the ISD, the shorter the BD. Based on these findings, we propose an extended classification of Sirenomelia to be tested by other researchers...
  7. Stanitski D, Stanitski C. Fibular hemimelia: a new classification system. J Pediatr Orthop. 2003;23:30-4 pubmed
  8. Liu J, Krantz I. Cohesin and human disease. Annu Rev Genomics Hum Genet. 2008;9:303-20 pubmed publisher
    ..Here we review the phenotypes of these disorders, collectively termed cohesinopathies, as well as the mechanism by which cohesin disruption likely causes these diseases...
  9. Gerton J. Translational mechanisms at work in the cohesinopathies. Nucleus. 2012;3:520-5 pubmed publisher
    ..By considering this possibility we can more fully evaluate causes and treatments for the cohesinopathies...
  10. Garrido Allepuz C, Haro E, González Lamuño D, Martinez Frias M, Bertocchini F, Ros M. A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations. Dis Model Mech. 2011;4:289-99 pubmed publisher
  11. Bronfen C, Rigault P, Padovani J, Touzet P, Finidori G, Chaumien J. [Foot deformities in longitudinal ectromelia of the lower limbs]. Int Orthop. 1994;18:139-49 pubmed
    ..If limb lengthening is impossible, the foot must be adapted to match the prosthesis...
  12. Castilla E, Mastroiacovo P, Lopez Camelo J, Saldarriaga W, Isaza C, Orioli I. Sirenomelia and cyclopia cluster in Cali, Colombia. Am J Med Genet A. 2008;146A:2626-36 pubmed publisher
    ..The time-space cluster is nonrandom for sirenomelia, and possibly random for cyclopia. The polluting landfill remains as a possible etiological factor...
  13. Mönnich M, Kuriger Z, Print C, Horsfield J. A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle. PLoS ONE. 2011;6:e20051 pubmed publisher
    ..Our results show that mutations in different elements of the cohesion apparatus have distinct developmental outcomes, and provide insight into why CdLS and RBS are distinct diseases...
  14. Drossou Agakidou V, Xatzisevastou Loukidou C, Soubasi V, Kostopoulou E, Laporda A, Pantzaki A, et al. Rare manifestations of sirenomelia syndrome: a report of five cases. Am J Perinatol. 2004;21:395-401 pubmed
    ..Other features that have only rarely been associated with sirenomelia included concurrence of congenital heart disease and neuroblastoma, gallbladder agenesis, and upper extremity defects...
  15. Searle C, Hildebrand R, Lester E, Caskey P. Findings of fibular hemimelia syndrome with radiographically normal fibulae. J Pediatr Orthop B. 2004;13:184-8 pubmed
    ..All of these three limbs had ball and socket ankles and tarsal coalitions and two had shortening. These patients represent a mild subset of fibular hemimelia syndrome and we propose that they be classified as type 0 fibular hemimelia...
  16. Olney R, Hoyme H, Roche F, Ferguson K, Hintz S, Madan A. Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection. Am J Med Genet. 2001;103:295-301 pubmed
  17. Suto J, Sekikawa K. Y-chromosomal factor is involved in neonatal lethality in (female symbolDDD x male symbolDH- Dh/+) F(1)- Dh/+ male mice. Mamm Genome. 2002;13:149-52 pubmed
    ..The X Chr-linked locus could not compensate for the role of the Y Chr-linked locus. These results suggest that not all M. m. domesticus Y Chrs are the same...
  18. Suto J, Wakayama T, Imamura K, Goto S, Fukuta K. Skeletal malformations caused by the Dh (Dominant hemimelia) gene in mice. Exp Anim. 1996;45:95-8 pubmed
    ..Abnormal fusion of the ventral part of the rib was observed in some cases. Lumbar vertebrae were fewer in number and abnormal in shape. Although it was rare, a curled tail was also observed due to distortion of the caudal vertebrae...
  19. Thottungal A, Charles A, Dickinson J, Bower C. Caudal dysgenesis and sirenomelia-single centre experience suggests common pathogenic basis. Am J Med Genet A. 2010;152A:2578-87 pubmed publisher
    ..This series of cases is notable for the significant association with neural tube defects, refining the renal and urogenital pathology associated with these conditions, and supporting the concept of a continuum of the disease spectrum...
  20. Duesterhoeft S, Ernst L, Siebert J, Kapur R. Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression-sirenomelia spectrum. Am J Med Genet A. 2007;143A:3175-84 pubmed
  21. Messineo A, Innocenti M, Gelli R, Pancani S, Lo Piccolo R, Martin A. Multidisciplinary surgical approach to a surviving infant with sirenomelia. Pediatrics. 2006;118:e220-3 pubmed
    ..At the time of this writing, the infant was 28 months old and had a regular growth curve. Many future reconstructive surgeries have been planned to achieve an acceptable quality of life for this infant...
  22. Baek G, Kim J, Chung M, Lee S. Terminal hemimelia of the lower extremity: absent lateral ray and a normal fibula. Int Orthop. 2008;32:263-7 pubmed
    ..The clinical features above the ankle joint were different between both groups. Knees and ankles were stable, and gait disturbance were rarely noticed in patients with terminal hemimelia of the lower extremity...
  23. Patel S, Suchet I. The role of color and power Doppler ultrasound in the prenatal diagnosis of sirenomelia. Ultrasound Obstet Gynecol. 2004;24:684-91 pubmed
    ..We present three prospectively assessed cases of sirenomelia, two of which had bilateral renal agenesis, and all of which had a single umbilical artery derived from the aberrant vasculature that accompanies the syndrome...
  24. Sikandar R, Munim S. Sirenomelia, the Mermaid syndrome: case report and a brief review of literature. J Pak Med Assoc. 2009;59:721-3 pubmed
    ..The foetus was identified to have characteristic features of Sirenomelia at the time of termination...
  25. Orioli I, Mastroiacovo P, Lopez Camelo J, Saldarriaga W, Isaza C, Aiello H, et al. Clusters of sirenomelia in South America. Birth Defects Res A Clin Mol Teratol. 2009;85:112-8 pubmed publisher
    ..One hospital in the city of Cali, Colombia, of the ECLAMC (Latin-American Collaborative Study of Congenital Malformations) network, reported the unusual occurrence of four cases of sirenomelia within a 55-day period...
  26. Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, et al. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet. 2005;37:468-70 pubmed
    ..The ESCO2 protein product is a member of a conserved protein family that is required for the establishment of sister chromatid cohesion during S phase and has putative acetyltransferase activity...
  27. Kamping S, Lütkenhöner B, Knecht S. Shifting of cortical somatosensory areas in a man with amelia. Neuroreport. 2004;15:2365-8 pubmed
    ..These data illustrate a case of extensive cortical reorganization and suggest that the potential overlap of different body parts is much greater than previously anticipated...
  28. Maas C, Arand J, Orlikowsky T, Goelz R. [Newborn with phocomelia and thrombocytopenia. Case report]. Z Geburtshilfe Neonatol. 2002;206:161-3 pubmed
    ..A new experimental approach is the Interleukin-6-mediated stimulation of thrombopoiesis. Usually platelet counts reach normal values in adults. The main problem remains a satisfactory management of various limb defects...
  29. Eze K, Akhigbe A, Awosanya G. Fibular hemimelia: a case report. Niger J Clin Pract. 2007;10:259-61 pubmed
    ..The radiological diagnosis and differential diagnosis are discussed. The treatments which include repeated corrective osteotomies and leg-lengthening surgery are costly and associated with residual deformity...
  30. Pillay M, Yesodharan D, Narayanan D, Jojo A, Luiz N, Nampoothiri S. Sirenomelia: case reports and current concepts of pathogenesis. Pediatr Dev Pathol. 2012;15:403-6 pubmed publisher
  31. Megier P, Esperandieu O, Martin J, Desroches A. Three-dimensional ultrasound in the diagnosis of left upper limb amelia and right upper limb deficiency at 10 weeks' gestation. Ultrasound Obstet Gynecol. 2002;20:303-4 pubmed
  32. Abel D, Hertzberg B, James A. Antenatal sonographic diagnosis of isolated bilateral fibular hemimelia. J Ultrasound Med. 2002;21:811-5 pubmed
  33. Patankar H. Bilateral congenital aplasia of the scaphoid. J Hand Surg Br. 1998;23:817-9 pubmed
  34. Gerkes E, van der Kevie Kersemaekers A, Yakin M, Smeets D, van Ravenswaaij Arts C. The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies. Eur J Med Genet. 2010;53:40-4 pubmed publisher
    ..We also discuss the difference between premature centromere separation and premature (sister) chromatid separation...
  35. Oberc A, Sułko J. Fibular hemimelia - diagnostic management, principles, and results of treatment. J Pediatr Orthop B. 2013;22:450-6 pubmed publisher
    ..The combination of epiphysiodesis with elongation produces the best outcome and is best accepted by the patients. ..
  36. Goldfarb C, Manske P, Busa R, Mills J, Carter P, Ezaki M. Upper-extremity phocomelia reexamined: a longitudinal dysplasia. J Bone Joint Surg Am. 2005;87:2639-48 pubmed
    ..The purpose of this investigation was to present evidence that upper-extremity abnormalities in patients previously diagnosed as having phocomelia in fact represent a proximal continuum of radial or ulnar longitudinal dysplasia...
  37. Winter R. Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection. Am J Med Genet. 2002;111:457; author reply 458 pubmed
  38. Funk M, Lutz K, Hotz Boendermaker S, Roos M, Summers P, Brugger P, et al. Sensorimotor tongue representation in individuals with unilateral upper limb amelia. Neuroimage. 2008;43:121-7 pubmed publisher
  39. Schmidt R. [Rainer Schmidt--a vital person despite multiple handicaps. The paralympic star chats with Angelika Staub about his multi-faceted life]. Kinderkrankenschwester. 2006;25:250-2 pubmed
  40. Bermejo Sánchez E, Cuevas L, Amar E, Bianca S, Bianchi F, Botto L, et al. Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. Am J Med Genet C Semin Med Genet. 2011;157C:305-20 pubmed publisher
    ..8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes. ..
  41. Cho T, Baek G, Lee H, Moon H, Yoo W, Choi I. Tibial hemimelia-polydactyly-five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS): a case report. J Pediatr Orthop B. 2013;22:219-21 pubmed publisher
    ..The authors report a sporadic case of bilateral tibial hemimelia-preaxial polydactyly-five-fingered hands harboring the same mutation. This case further supports a causal relationship between this mutation and the phenotype...
  42. Ferrer Vaquer A, Hadjantonakis A. Birth defects associated with perturbations in preimplantation, gastrulation, and axis extension: from conjoined twinning to caudal dysgenesis. Wiley Interdiscip Rev Dev Biol. 2013;2:427-42 pubmed publisher
    ..We will also review some of the rare birth defects occurring at these stages, in particular those resulting in conjoined twinning or caudal dysgenesis...
  43. Goh E, Li C, Horsburgh S, Kasai Y, Kolomietz E, Morel C. The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. Am J Med Genet A. 2010;152A:472-8 pubmed publisher
    ..Molecular studies of ESCO2 have confirmed the diagnosis. A literature review, focussing on adult manifestations of this condition and a discussion of follow-up guidelines are presented...
  44. Temtamy S, Ismail S, Helmy N. Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings. Genet Couns. 2006;17:1-13 pubmed
    ..This confirms the need for molecular studies for early and accurate prenatal diagnosis to prevent such dramatic malformation syndrome...
  45. Dorenbeck U, Schreyer A, Plendl P, Hees H, Feuerbach S, Held P. Magnetic resonance imaging, computed tomography, and conventional X-ray in 3 cases of symmelia. Birth Defects Res A Clin Mol Teratol. 2005;73:628-33 pubmed
    ..Symmelia is a rare birth defect, often combined with severe malformations of the urogenital system and the lower gastrointestinal tract. Additionally, a deformed pelvis and various degrees of separation of the lower limbs are present...
  46. Caskey P, Lester E. Association of fibular hemimelia and clubfoot. J Pediatr Orthop. 2002;22:522-5 pubmed
    ..The presence of a coalition is a relatively constant finding in this condition and should be anticipated by the treating clubfoot surgeon...
  47. Tönnis D, Schildhauer C, Schildhauer M. Therapy in unilateral sirenomelia: report of one case. J Pediatr Orthop B. 2001;10:255-8 pubmed
    ..At the age of 31 years, he has a sedentary job and is more troubled by his urogenital than his orthopaedic defects. He prefers to walk with crutches and for a few years has no longer used his prosthesis...
  48. Brugger P, Kollias S, Muri R, Crelier G, Hepp Reymond M, Regard M. Beyond re-membering: phantom sensations of congenitally absent limbs. Proc Natl Acad Sci U S A. 2000;97:6167-72 pubmed
    ..Both genetic and epigenetic factors, such as the habitual observation of other people moving their limbs, may contribute to the conscious experience of aplasic phantoms...
  49. Stevens C, Moore C. Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q. Am J Med Genet. 1999;85:409-12 pubmed
    ..We propose that a gene involved in limb development is contiguous with the TRPS II gene which, when deleted, may cause tibial hemimelia...
  50. Alp E, Alp H, Atabek M, Pirgon O. Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies. J Clin Res Pediatr Endocrinol. 2010;2:49-51 pubmed publisher
    ..Fetal ultrasonography at 15th week of gestation is helpful in diagnosing the major extremity anomalies in the fetus...
  51. Romano S, Esposito V, Fonda C, Russo A, Grassi R. Beyond the myth: the mermaid syndrome from Homerus to Andersen. A tribute to Hans Christian Andersen's bicentennial of birth. Eur J Radiol. 2006;58:252-9 pubmed
  52. Stewart C, Stewart M, Stewart F. Microgastria-limb reduction anomaly with total amelia. Clin Dysmorphol. 2002;11:187-90 pubmed
    ..We report the clinical progress of a 3-year-old girl with severe microgastria and total amelia who has been managed conservatively with minimal surgical intervention...
  53. Das B, Rajegowda B, Bainbridge R, Giampietro P. Caudal regression syndrome versus sirenomelia: a case report. J Perinatol. 2002;22:168-70 pubmed
    ..Recent literature describing the etiology of sirenomelia and relationship to caudal regression syndrome is reviewed...