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Semin Musculoskelet Radiol 2021; 25(02): 260-271
DOI: 10.1055/s-0040-1722613
Review Article

Congenital and Developmental Abnormalities of the Hand and Wrist

Filip M. Vanhoenacker
1   Department of Radiology, Antwerp University Hospital/University of Antwerp, Edegem, Belgium
2   Department of Radiology, AZ Sint-Maarten, Mechelen, Belgium
3   Department of Radiology, Ghent University Hospital/University of Ghent, Ghent, Belgium
,
Paolo Simoni 
4   Department of Pediatric Radiology and Medical Imaging, Hôpital Universitaire Des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles, Bruxelles, Belgium
,
Frederik Bosmans 
1   Department of Radiology, Antwerp University Hospital/University of Antwerp, Edegem, Belgium
2   Department of Radiology, AZ Sint-Maarten, Mechelen, Belgium
,
Nathalie Boutry 
5   Department of Pediatric Radiology, Jeanne de Flandre Hospital, CHU Lille, France
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Abstract

Identification of congenital skeletal abnormalities is complex because of the large variety of individual syndromes and dysplasias that are often difficult to remember. Although a correct diagnosis relies on a combination of clinical, radiologic, and genetic tests, imaging plays an important role in selecting those patients who should be referred for further genetic counseling and expensive genetic tests. In addition to information derived from radiologic analysis of other skeletal elements, radiographs of the hand and wrist may provide particular useful information. In the first part of this article, we provide a guide for a systematic radiologic analysis of the hand and wrist bones that may help characterize congenital and developmental diseases. Special attention is given to the use of correct terminology. In the second part, we discuss typical examples of congenital and developmental diseases involving the hand and wrist, with an emphasis on skeletal dysplasias.

Keywords

Hand - Wrist - Radiography - Congenital - Developmental

Supplementary Material



Publication History

Article published online:
03 June 2021

© 2021. Thieme. All rights reserved.

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  • References

  • 1 Vanhoenacker FM, Van Hul W, Gielen J, De Schepper AM. Congenital skeletal abnormalities: an introduction to the radiological semiology. Eur J Radiol 2001; 40 (03) 168-183
    CrossrefPubMedGoogle Scholar
  • 2 Bell J. On brachydactyly and symphalangism. In: Penrose L. ed. The Treasury of Human Inheritance. Cambridge, UK: Cambridge University Press; 1951
    Google Scholar
  • 3 Castriota Sanderbeg A, Dallapiccola B. Congenital defects, malformation syndromes and skeletal dysplasias. In: Guglielmi G, van Kuijk C, Genant H.K.. eds. Fundamentals of Hand and Wrist Imaging. Berlin, Germany: Springer; 2001: 155-202
    CrossrefGoogle Scholar
  • 4 Archibald RM, Finby N, De Vito F. Endocrine significance of short metacarpals. J Clin Endocrinol Metab 1959; 19: 1312-1322
    CrossrefPubMedGoogle Scholar
  • 5 Kozlowski K, Beighton P. eds. Gamut Index of Skeletal Dysplasias. An Aid to Radiodiagnosis. 3rd ed.. London, UK: Springer; 2001
    CrossrefGoogle Scholar
  • 6 de Jongh K, Vanhoenacker FM, Van de Perre S, Mertens G, De Schepper AM. Chondroectodermal dysplasia. JBR-BTR 2006; 89 (03) 124-125 . Accessed April 18, 2020 at: http://www.ncbi.nlm.nih.gov/pubmed/16883754
    PubMedGoogle Scholar
  • 7 Progeria. Accessed April 19, 2020 at: https://en.wikipedia.org/wiki/Progeria#cite_note-10
    PubMed
  • 8 Aucourt J, Budzik JF, Manouvrier-Hanu S, Mézel A, Cotten A, Boutry N. Congenital malformations of the hand and forearm in children: what radiologists should know. Semin Musculoskelet Radiol 2012; 16 (02) 146-158
    Article in Thieme ConnectPubMedGoogle Scholar
  • 9 Yang SS, Jackson L, Green DW, Weiland AJ. A rare variant of mirror hand: a case report. J Hand Surg Am 1996; 21 (06) 1048-1051
    CrossrefPubMedGoogle Scholar
  • 10 Foucras L, Grolleau JL, Chavoin JP. Poland's syndrome and hand's malformations: about a clinic series of 37 patients. [in French]. Ann Chir Plast Esthet 2005; 50 (02) 138-145
    CrossrefPubMedGoogle Scholar
  • 11 Friedman T, Reed M, Elliott AM. The carpal bones in Poland syndrome. Skeletal Radiol 2009; 38 (06) 585-591
    CrossrefPubMedGoogle Scholar
  • 12 Carlson DH. Coalition of the carpal bones. Skeletal Radiol 1981; 7 (02) 125-127
    CrossrefPubMedGoogle Scholar
  • 13 Ngo AV, Thapa M, Otjen J, Camps SE. Skeletal dysplasias: radiologic approach with common and notable entities. Semin Musculoskelet Radiol 2018; 22 (01) 66-80
    Article in Thieme ConnectPubMedGoogle Scholar
  • 14 Alayna Y, Lachman RS. A review of the principles of radiological assessment of skeletal dysplasias. J Clin Res Pediatr Endocrinol 2011; 3 (04) 163-178
    CrossrefPubMedGoogle Scholar
  • 15 Lachman RS. Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias. 5th ed.. Philadelphia, PA: Mosby-Elsevier; 2007
    Google Scholar
  • 16 Choo AD, Mubarak SJ. Longitudinal epiphyseal bracket. J Child Orthop 2013; 7 (06) 449-454
    CrossrefPubMedGoogle Scholar
  • 17 Delta Phalanx | Hand Surgery Source. Accessed May 8, 2020 at: https://www.handsurgeryresource.com/deltaphalanx
    PubMedGoogle Scholar
  • 18 Cotten A. Pseudo-lesions phalangiennes. In: Cotten A, Vande Berg B. eds. 18èmes Mises au Point en Imagerie Osteo-Articulaire. Course syllabus. Bruxelles, Belgium: Enseignement inter-universitaire de radiologie osteo-articulaire; 2018: 175-178
    Google Scholar
  • 19 van der Laan JG, Thijn CJP. Ivory and dense epiphyses of the hand: Thiemann disease in three sisters. Skeletal Radiol 1986; 15 (02) 117-122
    CrossrefPubMedGoogle Scholar
  • 20 Mangat P, Jawad ASM. Case number 32: Thiemann's disease. Ann Rheum Dis 2005; 64 (01) 11-12
    CrossrefPubMedGoogle Scholar
  • 21 Vanhoenacker FM, De Beuckeleer LH, Van Hul W. et al. Sclerosing bone dysplasias: genetic and radioclinical features. Eur Radiol 2000; 10 (09) 1423-1433
    CrossrefPubMedGoogle Scholar
  • 22 Favril A, Vanhoenacker F, Goubau Y, Jager T. Camptodactyly resulting from anatomical variation of lumbrical muscles: imaging findings. Skeletal Radiol 2019; 48 (12) 2009-2014
    CrossrefPubMedGoogle Scholar
  • 23 Offiah AC, Hall CM. Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C?. Pediatr Radiol 2003; 33 (03) 153-161
    CrossrefPubMedGoogle Scholar
  • 24 Panda A, Gamanagatti S, Jana M, Gupta AK. Skeletal dysplasias: a radiographic approach and review of common non-lethal skeletal dysplasias. World J Radiol 2014; 6 (10) 808-825
    CrossrefPubMedGoogle Scholar
  • 25 McKusick-Nathans Institute of Genetic Medicine. Johns Hopkins University School of Medicine under the direction of DAH. Online access of the Mendelian Inheritance in Man (OMIM). . Accessed January 11, 2021 at: https://www.ncbi.nlm.nih.gov/omim/
    PubMedGoogle Scholar
  • 26 Mortier GR. The diagnosis of skeletal dysplasias: a multidisciplinary approach. Eur J Radiol 2001; 40 (03) 161-167
    CrossrefPubMedGoogle Scholar
  • 27 Aleksieva-Ivkova G, Vanhoenacker FM, Mortier GR, Parizel PM. Une cause congénitale de douleur dans le dos et dans les jambes. Ortho-Rhumato 2017; 15 (05) 38-40
    PubMedGoogle Scholar
  • 28 Sawai H, Oka K, Ushioda M. et al. National survey of prevalence and prognosis of thanatophoric dysplasia in Japan. Pediatr Int (Roma) 2019; 61 (08) 748-753
    CrossrefPubMedGoogle Scholar
  • 29 Handa A, Voss U, Hammarsjö A, Grigelioniene G, Nishimura G. Skeletal ciliopathies: a pattern recognition approach. Jpn J Radiol 2020; 38 (03) 193-206
    CrossrefPubMedGoogle Scholar
  • 30 Marcelis S, Mortier G, Vanhoenacker F. Marked hypoplasia of the distal phalanges in Ellis-Van Creveld syndrome. J Belg Soc Radiol 2018; 102 (01) 42
    CrossrefPubMedGoogle Scholar
  • 31 Boulet C, Madani H, Lenchik L. et al. Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders. Br J Radiol 2016; 89 (1062): 20150349
    CrossrefPubMedGoogle Scholar
  • 32 Dierickx J, Mortier G, Vanhoenacker F. Une patiente avec des os denses. Ortho-Rhumato 2019; 17 (05) 34-40
    PubMedGoogle Scholar
  • 33 van Durme CMPG, Starmans-Kool MJF, Peeters HRM. Dripping candle wax. Neth J Med 2012; 70 (03) 140-143
    PubMedGoogle Scholar
  • 34 Farr S. Melorheostosis in the pediatric hand. Clin Case Rep 2019; 7 (05) 1110-1111
    CrossrefPubMedGoogle Scholar
  • 35 Kumar S, Jain VK, Prabhakar R. Melorheostosis of upper limb: A report of four rare cases. J Clin Orthop Trauma 2020; 11 (02) 321-323
    CrossrefPubMedGoogle Scholar
  • 36 Vyskocil V, Koudela Jr K, Pavelka T, Stajdlova K, Suchy D. Incidentally diagnosed melorheostosis of upper limb: case report. BMC Musculoskelet Disord 2015; 16 (01) 2
    CrossrefPubMedGoogle Scholar
  • 37 Ho A, White SJ, Rasmussen JE. Skeletal abnormalities of acrogeria, a progeroid syndrome. Skeletal Radiol 1987; 16 (06) 463-468
    CrossrefPubMedGoogle Scholar
  • 38 Jansen T, Romiti R. Progeria infantum (Hutchinson-Gilford syndrome) associated with scleroderma-like lesions and acro-osteolysis: a case report and brief review of the literature. Pediatr Dermatol 2000; 17 (04) 282-285
    CrossrefPubMedGoogle Scholar
  • 39 Cleveland RH, Gordon LB, Kleinman ME. et al. A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome. Pediatr Radiol 2012; 42 (09) 1089-1098
    CrossrefPubMedGoogle Scholar
  • 40 Wuyts W, Van Hul W, De Boulle K. et al. Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. Am J Hum Genet 1998; 62 (02) 346-354
    CrossrefPubMedGoogle Scholar
  • 41 Cook A, Raskind W, Blanton SH. et al. Genetic heterogeneity in families with hereditary multiple exostoses. Am J Hum Genet 1993; 53 (01) 71-79
    PubMedGoogle Scholar
  • 42 Wu YQ, Heutink P, de Vries BBA. et al. Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. Hum Mol Genet 1994; 3 (01) 167-171
    CrossrefPubMedGoogle Scholar
  • 43 Wuyts W, Ramlakhan S, Van Hul W. et al. Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. Am J Hum Genet 1995; 57 (02) 382-387
    PubMedGoogle Scholar
  • 44 Pacifici M. Hereditary multiple exostoses: new insights into pathogenesis, clinical complications, and potential treatments. Curr Osteoporos Rep 2017; 15 (03) 142-152
    CrossrefPubMedGoogle Scholar
  • 45 D'Arienzo A, Andreani L, Sacchetti F, Colangeli S, Capanna R. Hereditary multiple exostoses: current insights. Orthop Res Rev 2019; 11: 199-211
    PubMedGoogle Scholar
  • 46 Maffucci syndrome | Genetic and Rare Diseases Information Center (GARD)—an NCATS Program. Accessed April 21, 2020 at: https://rarediseases.info.nih.gov/diseases/6958/maffucci-syndrome
    PubMedGoogle Scholar
  • 47 Supradeeptha C, Shandilya SM, Vikram Reddy K, Satyaprasad J. Pachydermoperiostosis - a case report of complete form and literature review. J Clin Orthop Trauma 2014; 5 (01) 27-32
    CrossrefPubMedGoogle Scholar
  • 48 Yap FY, Skalski MR, Patel DB. et al. Hypertrophic osteoarthropathy: Clinical and imaging features. Radiographics 2017; 37 (01) 157-195
    CrossrefPubMedGoogle Scholar
  • 49 Martinez-Lavin M. Miscellaneous non-inflammatory musculoskeletal conditions. Pachydermoperiostosis. Best Pract Res Clin Rheumatol 2011; 25 (05) 727-734
    CrossrefPubMedGoogle Scholar
  • 50 Adams B, Amin T, Leone V, Wood M, Kraft JK. Primary hypertrophic osteoarthropathy: ultrasound and MRI findings. Pediatr Radiol 2016; 46 (05) 727-730
    CrossrefPubMedGoogle Scholar
  • 51 Binder G. Short stature due to SHOX deficiency: genotype, phenotype, and therapy. Horm Res Paediatr 2011; 75 (02) 81-89
    CrossrefPubMedGoogle Scholar
  • 52 Ali S, Kaplan S, Kaufman T, Fenerty S, Kozin S, Zlotolow DA. Madelung deformity and Madelung-type deformities: a review of the clinical and radiological characteristics. Pediatr Radiol 2015; 45 (12) 1856-1863
    CrossrefPubMedGoogle Scholar
  • 53 Kim HK. Madelung deformity with Vickers ligament. Pediatr Radiol 2009; 39 (11) 1251
    CrossrefPubMedGoogle Scholar
  • 54 Peeters J, Vanhoenacker FM, Mortier G, Parizel PM. Multicentric carpal-tarsal osteolysis. JBR-BTR 2011; 94 (04) 218
    PubMedGoogle Scholar
  • 55 McDonald K, Toms AP, Armon K, Johnson K, Marshall TJ. Carpal-tarsal osteolysis with elbow involvement. Skeletal Radiol 2007; 36 (11) 1097-1101
    CrossrefPubMedGoogle Scholar