congenital hand deformities

Summary

Summary: Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.

Top Publications

  1. Falliner A. [The cleft hand. Proposal of a classification based on 279 cleft hands]. Handchir Mikrochir Plast Chir. 2004;36:47-54; discussion 55-8 pubmed
    ..The new classification enables us to arrange the great diversity of this malformation and takes medioulnar and ulnar cleft hands into account. ..
  2. Managoli S, Chaturvedi P. Tibial hemimelia-split hand/foot syndrome with rare anomalies. Indian Pediatr. 2005;42:190-1 pubmed
  3. Holder Espinasse M, Escande F, Mayrargue E, Dieux Coeslier A, Fron D, Doual Bisser A, et al. Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations. J Med Genet. 2004;41:e78 pubmed
  4. Castriota Scanderbeg A, Garaci F, Beluffi G. Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis. Pediatr Radiol. 2005;35:535-8 pubmed
  5. Kjaer K, Eiberg H, Hansen L, van der Hagen C, Rosendahl K, Tommerup N, et al. A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. J Med Genet. 2006;43:225-31 pubmed
    ..BDA2 was first described by Mohr and Wriedt in a large Danish/Norwegian kindred and mutations in BMPR1B were recently demonstrated in two affected families...
  6. Lehmann K, Seemann P, Silan F, Goecke T, Irgang S, Kjaer K, et al. A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Am J Hum Genet. 2007;81:388-96 pubmed
  7. Plöger F, Seemann P, Schmidt von Kegler M, Lehmann K, Seidel J, Kjaer K, et al. Brachydactyly type A2 associated with a defect in proGDF5 processing. Hum Mol Genet. 2008;17:1222-33 pubmed publisher
    ..In contrast to mature rhGDF5, (rh) proGDF5 shows a high solubility at physiological pH, a characteristic that might be useful for therapeutic applications...
  8. Polinkovsky A, Robin N, Thomas J, Irons M, Lynn A, Goodman F, et al. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet. 1997;17:18-9 pubmed
  9. Castilla E, Lugarinho R, da Graca Dutra M, Salgado L. Associated anomalies in individuals with polydactyly. Am J Med Genet. 1998;80:459-65 pubmed
    ..Down syndrome is strongly associated with first-digit duplication, and negatively associated with postaxial polydactyly. The latter could not be explained by maternal age differences among Black and non-Black case sub-sets...

More Information

Publications102 found, 100 shown here

  1. Schwabe G, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen Kaesbach G, et al. Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. Am J Hum Genet. 2000;67:822-31 pubmed
    ..The BDB phenotype, as well as the location and the nature of the BDB mutations, suggests a specific mutational effect that cannot be explained by simple haploinsufficiency and that is distinct from that in Robinow syndrome...
  2. Galjaard R, van der Ham L, Posch N, Dijkstra P, Oostra B, Hovius S, et al. Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. Am J Med Genet. 2001;98:256-62 pubmed
    ..We present evidence that differences in complexity are not only due to locus heterogeneity, but that genetic modifiers and/or environmental factors must also play a role...
  3. Faiyaz ul Haque M, Ahmad W, Zaidi S, Haque S, Teebi A, Ahmad M, et al. Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). Clin Genet. 2002;61:454-8 pubmed
    ..This finding extends the spectrum of phenotypes produced by defects in the CDMP1 gene...
  4. Faiyaz Ul Haque M, Ahmad W, Wahab A, Haque S, Azim A, Zaidi S, et al. Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia. Am J Med Genet. 2002;111:31-7 pubmed
    ..The present report confirms that CDMP1 plays an important role in the regulation of axial bone growth during development and suggests that its absence does not impair other developmental processes...
  5. Goodman F. Limb malformations and the human HOX genes. Am J Med Genet. 2002;112:256-65 pubmed
    ..Limb malformations may also result from chromosomal deletions involving the HOXD and HOXA clusters, and from regulatory mutations affecting single or multiple HOX genes...
  6. Everman D, Bartels C, Yang Y, Yanamandra N, Goodman F, Mendoza Londono J, et al. The mutational spectrum of brachydactyly type C. Am J Med Genet. 2002;112:291-6 pubmed
    ..These data support the hypothesis that BDC results from functional haploinsufficiency for GDF5...
  7. Thomas J, Kilpatrick M, Lin K, Erlacher L, Lembessis P, Costa T, et al. Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. Nat Genet. 1997;17:58-64 pubmed
    ..The mutation and its proposed mechanism of action provide the first human genetic indication that composite expression patterns of different BMPs dictate limb and digit morphogenesis...
  8. Gao B, Guo J, She C, Shu A, Yang M, Tan Z, et al. Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. Nat Genet. 2001;28:386-8 pubmed
    ..The three mutant amino acids, which are conserved across all vertebrates and invertebrates studied so far, are predicted to be adjacent on the surface of IHH...
  9. Debeer P, De Smet L, Fryns J. Intrafamilial clinical variability in type C brachydactyly. Genet Couns. 2001;12:353-8 pubmed
    ..The observation of 'skipped generations' in the present family and in a few other families reported previously, may indicate that brachydactyly type C is not a true autosomal dominant condition due to mutations in a single gene...
  10. Savarirayan R, White S, Goodman F, Graham J, Delatycki M, Lachman R, et al. Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. Am J Med Genet A. 2003;117A:136-42 pubmed
    ..e., clubfoot, short stature, spondylolysis) may also result from CDMP-1 mutation...
  11. Cerrahoglu K, Izci Y, Apaydin O, Torun T. Bilateral congenital longitudinal deficiency of the tibia associated with split hand and atrial septal defect. Clin Dysmorphol. 2004;13:51-2 pubmed
    ..These have been reported previously to occur together by other investigators. There were no chromosomal abnormalities and the parents were non-consanguineous. ..
  12. Hayes I, Varigos G, Upjohn E, Orchard D, Penny D, Savarirayan R. Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti. Am J Med Genet A. 2005;135:302-3 pubmed
    ..A review of the cause of IP shows that these rare manifestations may not be unexpected, given the many roles of the underlying gene product. ..
  13. Canham N. Cutis aplasia as a feature of Kabuki syndrome. Clin Dysmorphol. 2006;15:179-80 pubmed
    ..This case report describes a child with the features of Kabuki syndrome, but with the additional feature of scalp cutis aplasia, which has not been previously described in this syndrome. ..
  14. Alicioglu B. Radiologic findings of the flexor pollicis longus hypoplasia. Skeletal Radiol. 2007;36 Suppl 1:120-3 pubmed
    ..We preoperatively present the radiological findings of this rare congenital anomaly. Ultrasound and magnetic resonance imaging (MRI) features have never been reported in the literature. ..
  15. Terrence Jose Jerome J. Congenital fusion of the trapezium and trapezoid. Rom J Morphol Embryol. 2008;49:417-9 pubmed
    ..We report an unusual case of carpal coalition between trapezium and trapezoid in a 54-year-old man who was diagnosed after a pain in left wrist following a night's sleep. The patient was otherwise asymptomatic...
  16. Sivaci R, Kahveci O, Celik M, Altuntas A, Solak M. Anesthesia management in Kabuki make-up syndrome. Saudi Med J. 2005;26:1980-2 pubmed
    ..At preoperative examination, as clinicians, we must be careful regarding patient morphology. Congenital heart defects and epilepsy are important for anesthesia management in KMS. ..
  17. Chaabouni M, Le Merrer M, Raoul O, Prieur M, De Blois M, Philippe A, et al. Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region. Eur J Med Genet. 2006;49:255-63 pubmed
    ..These findings when compared to previous observations allowed us to narrow down the brachydactyly critical region between BACs RP11-585E12 and RP11-351E10. It contains HDAC4 and STK25 candidate genes loci. ..
  18. Birgfeld C, Glick P, Singh D, Larossa D, Bartlett S. Midface growth in patients with ectrodactyly-ectodermal dysplasia-clefting syndrome. Plast Reconstr Surg. 2007;120:144-50 pubmed
    ..The need for orthognathic surgery seems to be greater than that seen in patients who have clefts of the lip and palate but do not carry the syndrome. ..
  19. Valenti P. [Central ray deficiency of the hand]. Chir Main. 2010;29:147-54 pubmed publisher
    ..Treatment improves aesthetic aspect of the hand and maintains excellent function. A retrospective review of 33 operated cases is presented. ..
  20. Jangid S, Khan S. Freeman-Sheldon syndrome. Indian Pediatr. 2005;42:717 pubmed
  21. Thirkannad S, Burgess R. A technique for using the Ilizarov fixator for primary centralization in radial clubhand. Tech Hand Up Extrem Surg. 2008;12:71-8 pubmed publisher
    ..Once this is achieved, the correction is secured at a second stage by pinning the carpus to the ulna. We describe in detail the technique of constructing the Ilizarov frame for this purpose. ..
  22. Wu J, Tian G, Zhao J, Li C, Zhang Y, Pan Y. [Clinical analysis of 73 cases of macrodactyly]. Zhonghua Wai Ke Za Zhi. 2008;46:514-7 pubmed
    ..The progressive macrodactyly is more common than static. It may present at birth and combine with syndactyly, digital deviation, thenar eminence hypertrophy, palm and forearm hyperplasia. ..
  23. Lanzl I, Seidova S, Erben A, Thürmel K, Kotliar K. [Diffuse stromal corneal opacity and alterations of the hands]. Ophthalmologe. 2010;107:363-5 pubmed publisher
    ..The stromal diffuse corneal opacity was indicative of Schleie syndrome. For patients with reduced vision a lamellary keratoplasty is to be recommended. ..
  24. Priya -, Malhotra A. Townes-Brocks syndrome. Indian Pediatr. 2004;41:743 pubmed
  25. Ulkur E, Celikoz B, Ergun O. Surgical management of the windblown hand in the adult. Plast Reconstr Surg. 2006;117:95e-100e pubmed
  26. Chancholle A, Souquet R, Moutet F, Saboye J. [Treatment indications for hand agenesis or acquired loss: Standard technics versus allotransplantation (CTA)]. Ann Chir Plast Esthet. 2010;55:272-86 pubmed publisher
    ..There are other treatments: the old operation of Krukenberg or new bionic prosthesis. This work is a recall of obvious or forgotten facts...
  27. Jun J, Uhm W, Joo K. Metacarpophalangeal joint of short metacarpal bone in rheumatoid arthritis. Ann Rheum Dis. 2004;63:1709-10; author reply 1710 pubmed
  28. Johnson H. The Renaissance fifth finger. J R Soc Med. 2005;98:87; author reply 87 pubmed
  29. Machado Rosa R, Gazzola Zen P, Machado Neto L, Graziadio C, Paskulin G. Symmetrical absence of hands and feet with bilateral radius agenesia: case report of a new entity?. Clin Dysmorphol. 2006;15:235-7 pubmed
  30. Ozkan T, Tuncer S. [Tendon transfers for the upper extremity in cerebral palsy]. Acta Orthop Traumatol Turc. 2009;43:135-48 pubmed publisher
    ..Amongst these surgical treatment options, this article will present, in more detail, tendon transfers which are performed especially to achieve balance and restore motor functions...
  31. Ramirez D, Lammer E. Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations. Cleft Palate Craniofac J. 2004;41:501-6 pubmed
    ..To describe the largest family reported with the lacrimoauriculodentodigital (LADD) syndrome...
  32. Dimitrov B, Balikova I, Jekova N, Vakrilova L, Fryns J, Simeonov E. Acrofacial dysostosis type Rodríguez. Am J Med Genet A. 2005;135:81-5 pubmed
    ..We present a newborn girl with Rodríguez type of AFD, who died a few days after the birth due to respiratory failure. The phenotype and the cause of this condition are discussed. ..
  33. Piza Katzer H, Baur E, Rieger M, Balogh B. [A "simple" method for correction of the Apert's hand]. Handchir Mikrochir Plast Chir. 2008;40:322-9 pubmed publisher
    ..This is a simplified method in which the thumb is also straightened either during the same intervention or at a later date. This approach is explained with the help of three of our cases. ..
  34. Girard M, Amiel J, Fabre M, Pariente D, Lyonnet S, Jacquemin E. Adams-Oliver syndrome and hepatoportal sclerosis: occasional association or common mechanism?. Am J Med Genet A. 2005;135:186-9 pubmed
    ..We hypothesize that the association of both disorders may not be fortuitous and reinforces the idea that AOS and HPS may share a vascular thrombotic mechanism...
  35. Temtamy S, Aglan M, Ashour A, Ramzy M, Hosny L, Mostafa M. 3-M syndrome: a report of three Egyptian cases with review of the literature. Clin Dysmorphol. 2006;15:55-64 pubmed
    ..This syndrome may be underreported because of the phenotypic overlap with other low birth dwarfism syndromes. Recent identification of a gene mutated in some cases of 3-M syndrome will aid diagnosis. ..
  36. Leca J, Auquit Auckbur I, Bachy B, Milliez P. [Non vascularized toe phalangeal transfers for symbrachydactyly. Active range of motion without joint reconstruction]. Ann Chir Plast Esthet. 2008;53:513-6 pubmed publisher
    ..All authors who have reported active range of motion of toe phalangeal transfers have performed joint reconstruction. Here, we report obtaining active range of motion of phalangeal transfers without necessity of joint reconstruction. ..
  37. Brancati F, Mingarelli R, Sarkozy A, Dallapiccola B. Ablepharon-macrostomia syndrome in a 46-year-old woman. Am J Med Genet A. 2004;127A:96-8 pubmed
    ..A clinical comparison between our patient and previously reported AMS cases aids in delineating the adult phenotype of AMS and further broadens the clinical spectrum of this condition. ..
  38. Benatar N. Kirner's deformity treated by distal detachment of the flexor digitorum profundus tendon. Handchir Mikrochir Plast Chir. 2004;36:166-9 pubmed
    ..Distal detachment of the flexor digitorum profundus tendon has already led to encouraging results. Intraoperative findings, surgical technique and results are shown. ..
  39. Foucras L, Grolleau J, Chavoin J. [Poland'syndrome and hand's malformations: about a clinic series of 37 patients]. Ann Chir Plast Esthet. 2005;50:138-45 pubmed
    ..The search of homolateral upper end has to be systematic in front of suspicious of Poland's syndrome. ..
  40. Das A, Ray B, Das D, Das S. A case of Goldenhar-Gorlin syndrome with unusual association of hypoplastic thumb. Indian J Ophthalmol. 2008;56:150-2 pubmed
    ..The association of hypoplastic thumb with Goldenhar-Gorlin syndrome has not been documented in the past...
  41. Khonsari R, Blechman K, Michaels J, Vigler M, Chiu D, Wallerstein R, et al. Vascular malformations and upper extremity anomalies associated with a subtelomeric microdeletion of chromosome 4p. Clin Dysmorphol. 2008;17:193-4 pubmed publisher
  42. Pontillo A, Flex E, Miertus J. Gene symbol: GJA1. Disease: oculodentodigital dysplasia. Hum Genet. 2005;116:235 pubmed
  43. Rossi M, De Simone M, Pollice A, Santoro R, La Mantia G, Guerrini L, et al. Itch/AIP4 associates with and promotes p63 protein degradation. Cell Cycle. 2006;5:1816-22 pubmed
  44. Temtamy S, Aglan M. Brachydactyly. Orphanet J Rare Dis. 2008;3:15 pubmed publisher
    ..If brachydactyly forms part of a syndromic entity, prognosis often depends on the nature of the associated anomalies. ..
  45. Gioli Pereira L, Pereira A, Mesquita S, Xavier Neto J, Lopes A, Krieger J. NKX2.5 mutations in patients with non-syndromic congenital heart disease. Int J Cardiol. 2010;138:261-5 pubmed publisher
    ..Screening strategies considering the identification of germ-line molecular defects in congenital heart disease are still unwarranted and should consider other genes besides NKX2.5. ..
  46. Foucher G, Medina J, Lorea P, Pivato G, Szabo Z. Pollicization in congenital differences. Handchir Mikrochir Plast Chir. 2004;36:146-51 pubmed
    ..In a prospective series of 32 cases, we tried to improve both the function and appearance of the thumb by modifying the classical incision as well as the transferred muscles and tendons. ..
  47. Richardson P, Johnstone B, Coombs C. Toe-to-hand transfer in symbrachydactyly. Hand Surg. 2004;9:11-8 pubmed
    ..Despite abnormal anatomy, the functional building blocks have always been available and transfer technically possible. The result has been improved function and high levels of parental satisfaction. ..
  48. Mathijssen I, Fryns J, Devriendt K, Sznajer Y, Van Eygen M. Iris heterochromia: a variable feature in Verloes-Koulischer-oral-acral syndrome. Am J Med Genet A. 2005;132A:338-9 pubmed
  49. Becker R, Horn D, Knoll U, Stumm M, Wegner R, Peters H, et al. First-trimester prenatal diagnosis of Okihiro syndrome. Fetal Diagn Ther. 2010;27:222-6 pubmed publisher
    ..The diagnosis was confirmed by autoptic, radiologic and molecular genetic analysis. To our knowledge, this is the first case of prenatal diagnosis of OS. ..
  50. Jafari D, Sharifi B. A variant of mirror hand. A case report. J Bone Joint Surg Br. 2005;87:108-10 pubmed
    ..There was duplication of the humeral head. The unique features of this case are the age of patient before the start of treatment and extension of the duplication proximal to the elbow...
  51. Moss A, Papanastasiou S. The ski jump deformity of the distal phalanx: a new entity?. J Pediatr Orthop B. 2005;14:198-201 pubmed
    ..A case of a congenital hand anomaly is presented in which the distal phalanx of the little finger was curving dorsally in the sagittal plane. This may be the first reported case. A surgical approach to correct it is described...
  52. Belouli K, Beer G, Burg D, Weishaupt D, Meyer V. [Verification of thumb-specific muscles in a triphalangeal thumb with magnetic resonance imaging]. Handchir Mikrochir Plast Chir. 2005;37:207-9 pubmed
    ..We report of the possibility of a non-invasive identification of thumb-specific muscles by means of magnetic resonance imaging...
  53. Philip Sarles N. [Genetics of congenital hand malformations]. Chir Main. 2008;27 Suppl 1:S7-20 pubmed publisher
    ..The hand malformation may be the first manifestation of a more complex syndrome, the other symptoms appearing later in life. Children must be referred to a pediatric and/or genetic clinic in order to perform complementary investigations...
  54. Kmetz E, Shashidhar Pai G, Burges G. Incontinentia pigmenti with a foreshortened hand: evidence for the significance of NFkappaB in human morphogenesis. Pediatr Dermatol. 2009;26:83-6 pubmed publisher
    ..Further studies in established animal models may help to further define these roles...
  55. Oberg K, Greer L, Naruse T. Embryology of the upper limb: the molecular orchestration of morphogenesis. Handchir Mikrochir Plast Chir. 2004;36:98-107 pubmed
    ..In addition, cascades disrupted by known genetic mutations associated with limb malformations are identified...
  56. Quinn S, Black G, Biswas S, Clayton Smith J, Lloyd I. Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis. Ophthalmic Genet. 2004;25:277-83 pubmed
    ..However, we believe that this family manifests a previously undescribed syndrome due to autosomal dominant or possibly x-linked inheritance with variable expression...
  57. Jiang M, Han W, Bian C, Wang G, Li W, Sun L, et al. [Report of a rare distal arthrogrophy large family]. Yi Chuan. 2004;26:803-6 pubmed
    ..We investigated their living environment, the dietary habit, obstetrical history, physical status, lifespan, and studied cytogenetics and so on. We propose these defects were rare distal arthrogrophy genetic disease...
  58. Tay S, Moran S, Shin A, Cooney W. The hypoplastic thumb. J Am Acad Orthop Surg. 2006;14:354-66 pubmed
    ..Management, which is primarily determined by the grade of thumb hypoplasia, may include nonsurgical techniques, reconstruction, pollicization, and, recently, microsurgical procedures...
  59. van Silfhout A, van den Akker P, Dijkhuizen T, Verheij J, Olderode Berends M, Kok K, et al. Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism. Eur J Hum Genet. 2009;17:1432-8 pubmed publisher
    ..We review previously reported studies that support this hypothetical mechanism...
  60. Mitter D, Chiaie B, Lüdecke H, Gillessen Kaesbach G, Bohring A, Kohlhase J, et al. Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1. Am J Med Genet A. 2010;152A:1213-24 pubmed publisher
    ..This should help to link particular phenotypes to specific genes, and add to our understanding of the underlying developmental processes...
  61. Acar P. [Three-dimensional echocardiography in congenital heart disease]. Arch Pediatr. 2006;13:51-6 pubmed
    ..Its values should be decisive in many congenital cardiac lesions requiring surgery or interventional catheterisation...
  62. Karalezli N, Karakose S, Haykir R, Yagisan N, Kacira B, Tuncay I. Linburg-Comstock anomaly in musicians. J Plast Reconstr Aesthet Surg. 2006;59:768-71 pubmed
    ..Follow-up of the patient who was operated on revealed full pain-free function without any complaint. Surgical treatment although rarely necessary, is simple and effective...
  63. Muhammed K, Nandakumar G. Moore Federman syndrome: A rare cause of pseudoscleroderma. Indian J Dermatol Venereol Leprol. 2007;73:257-9 pubmed
    ..She had short digits and no family history of similar illness. To the best of our knowledge, this could be the fourth report of MFS...
  64. Ramkisson R, Campbell M, Agius M. The clinical dilemma--prescribing in pregnancy. Psychiatr Danub. 2008;20:88-90 pubmed
    ..We present two cases where a choice had to be made as to whether to prescribe Olanzapine during pregnancy, with different results...
  65. Maass P, Wirth J, Aydin A, Rump A, Stricker S, Tinschert S, et al. A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E. Hum Mol Genet. 2010;19:848-60 pubmed publisher
    ..These results are the first to identify a cis-directed PTHLH downregulation as primary cause of human chondrodysplasia...
  66. Debeer P, Vandenbossche L, de Ravel T, Desloovere C, De Smet L, Huysmans C, et al. Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: a variant of SHFM1. Clin Genet. 2004;65:153-5 pubmed
  67. Gradinger R. [Malformations of the ears, hands or feet. No child need now be stigmatized by such deformities]. MMW Fortschr Med. 2003;145:25 pubmed
  68. Abdel Ghani H, Amro S. Characteristics of patients with hypoplastic thumb: a prospective study of 51 patients with the results of surgical treatment. J Pediatr Orthop B. 2004;13:127-38 pubmed
    ..Our study agrees with the literature regarding the distribution of different types of hypoplasia of the thumb, the incidence of associated anomalies and the results of surgical treatment...
  69. Schenker M, Wiberg M, Kay S, Johansson R. Precision grip function after free toe transfer in children with hypoplastic digits. J Plast Reconstr Aesthet Surg. 2007;60:13-23 pubmed
    Although toe-to-hand transfer has a defined role in the management of congenital hand deformities, it remains unclear how well children integrate the transferred digits into physiological grasping...
  70. Dundar M, Saatci C, Tasdemir S, Akcakus M, Caglayan A, Ozkul Y. Frank-ter Haar syndrome with unusual clinical features. Eur J Med Genet. 2009;52:247-9 pubmed publisher
    ..Hypopigmented areas in hair, bilateral adducted thumb, bilateral contractures in elbows and pelvic limb, atrial septal defect have not been described previously in the literature. Our patient also had double-outlet right ventricle...
  71. Ricks C, Masand R, Fang P, Roney E, Cheung S, Scott D. Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25. Am J Med Genet A. 2010;152A:453-8 pubmed publisher
  72. Klopocki E, Hennig B, Dathe K, Koll R, de Ravel T, Baten E, et al. Deletion and point mutations of PTHLH cause brachydactyly type E. Am J Hum Genet. 2010;86:434-9 pubmed publisher
    ..Thus, loss-of-function mutations in PTHLH cause BDE with short stature...
  73. Hu Z, Yu X, Li Q, Zhang A, Deng X, Zhang A. [One family investigation and pathogeny research on ectrodactyly, absence of radius side part palm and split foot malformation]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004;21:482-4 pubmed
    ..The paper is a study on the clinical symptoms and pathogeny of ectrodactyly and absence of radius side part palm and split foot malformation of some patients in one family...
  74. Elliott A, Reed M, Chudley A, Chodirker B, Evans J. Clinical and epidemiological findings in patients with central ray deficiency: split hand foot malformation (SHFM) in Manitoba, Canada. Am J Med Genet A. 2006;140:1428-39 pubmed
    ..Two had deletions involving 9q and 5p respectively. Unlike some other studies, we did not find an excess of males or right-sided defects and only two of the cases--two sisters--were related...
  75. Gangata H. The clinical surface anatomy anomalies of the palmaris longus muscle in the Black African population of Zimbabwe and a proposed new testing technique. Clin Anat. 2009;22:230-5 pubmed publisher
    ..The author proposes a new technique to test the tendon of PLM, which combines resisted thumb abduction and resisted wrist flexion. The proposed technique capitalizes on the role of the PLM as an important abductor of the thumb...
  76. Sammer D, Chung K. Congenital hand differences: embryology and classification. Hand Clin. 2009;25:151-6 pubmed publisher
    ..The Swanson/International Federation of Societies for Surgery of the Hand classification system is described, along with a discussion of the difficulties in classifying congenital hand differences based on morphology or etiology...
  77. Zwijnenburg P, van Hagen J. [A neonate with a congenital hand defect]. Ned Tijdschr Geneeskd. 2010;154:A996 pubmed
    ..A newborn presented with a birth defect of his left hand and unilateral hypoplasia of his left musculus pectoralis major and left nipple. He was diagnosed with Poland syndrome...
  78. Clarkson J, Homfray T, Heron C, Moss A. Catel-Manzke syndrome: a case report of a female with severely malformed hands and feet. An extension of the phenotype or a new syndrome?. Clin Dysmorphol. 2004;13:237-40 pubmed
    ..The foot abnormalities are more extensive than any previously seen in this syndrome. This is only the 8th female case out of a total of 27 reported cases...
  79. Jimenez R, Jaramillo D, Connolly S. Imaging of the pediatric hand: soft tissue abnormalities. Eur J Radiol. 2005;56:344-57 pubmed
    ..MRI by virtue of its ability to provide detailed soft tissue characterization is the preferred method of imaging the problematic soft tissue mass...
  80. Furrer M, Schweizer A, Meuli Simmen C. Aplasia of the flexor digitorum profundus tendon of the small finger. J Hand Surg Eur Vol. 2007;32:111-2 pubmed
  81. Funk M, Brugger P. Mental rotation of congenitally absent hands. J Int Neuropsychol Soc. 2008;14:81-9 pubmed
    ..They are further compatible with the view that phantom limbs in hand amelia may constrain motor imagery as much as do amputation phantoms...
  82. Lopriore E, Lewi L, Oepkes D, Debeer A, Vandenbussche F, Deprest J, et al. In utero acquired limb ischemia in monochorionic twins with and without twin-to-twin transfusion syndrome. Prenat Diagn. 2008;28:800-4 pubmed publisher
    ..To report on the occurrence of in utero acquired limb ischemia in two referral institutions managing monochorionic (MC) twins with and without twin-to-twin transfusion syndrome (TTTS) and estimate its prevalence...
  83. Cole P, Kaufman Y, Hollier L. Bifid nose with cleft hand deformity: syndromic association or undescribed anomaly?. J Craniofac Surg. 2008;19:1594-6 pubmed publisher
    ..Here, we present a 4-month-old female infant with a coincident bifid nose and central ray deficiency...
  84. Jyoti A, Kumar S, Vandana M, Gayatri R, Vijay K. Unilateral duplication of palmar arterial arches--a case report. Ital J Anat Embryol. 2008;113:257-63 pubmed
    ..The superficial palmar branch of radial artery was absent...
  85. Wieland I, Muschke P, Jakubiczka S, Volleth M, Freigang B, Wieacker P. Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia. J Med Genet. 2004;41:e54 pubmed
  86. Foucher G. Ten years CHASG, a combination of science and friendship. Handchir Mikrochir Plast Chir. 2004;36:189-90 pubmed
  87. Pinette M, Garcia L, Wax J, Cartin A, Blackstone J. Familial ectrodactyly. J Ultrasound Med. 2006;25:1465-7 pubmed
  88. Castori M, Brancati F, Mingarelli R, Mundlos S, Dallapiccola B. A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. Am J Med Genet A. 2007;143A:195-9 pubmed
    ..Also, radial and ulnar rays are similarly affected. The CS clinical spectrum is expanded to include ungueal tumor-like lesions, observed in the present patient...
  89. Jethani J, Mishra A, Shetty S, Vijayalakshmi P. Weill-Marchesani syndrome associated with retinitis pigmentosa. Indian J Ophthalmol. 2007;55:142-3 pubmed
    ..Though RP has been associated with ectopia lentis in earlier reports, this is, to the best of our knowledge, the first case report describing the association of RP and Weill-Marchesani syndrome...
  90. Golbert M, Dewes L, Philipsen V, Wachholz R, Deutschendorf C, Leite J. New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis. Clin Dysmorphol. 2007;16:85-8 pubmed
    ..A few reported patients have clavicular hyploplasia but hip subluxation with acetabular dysplasia and mesomelic shortening of limbs have not been described...
  91. El Hage S, Ghanem I, Megarbane A, Razzouk C, Dagher F, Kharrat K. [Mirror hand deformity: a new phenotype with literature review]. Rev Chir Orthop Reparatrice Appar Mot. 2008;94:174-8 pubmed publisher
    ..We present the clinical, anatomic, electromyographic, genetic and therapeutic aspects of this rare deformity and discuss data presented in the literature...
  92. Jamsheer A. [Genetic background of isolated forms of congenital malformations of the hand]. Med Wieku Rozwoj. 2008;12:729-37 pubmed
    ..Since there is an abundance of syndromes with congenital hand anomalies, the paper is focused mainly on the non-syndromic hand malformations and their genetic etiology...