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Dorsal–Ventral Deficiency

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Congenital Anomalies of the Upper Extremity

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Abstract

Dorsal–ventral deficiency may occur during “hand paddle” (also known as the “autopod”) development. The chapter details the embryology of the dorsal–ventral axis of limb development. Ventral deficiency (also known as dorsal dimelia) and dorsal deficiency (also known as ventral dimelia) have been induced in experimental animals and have also been observed in humans. The pathogenesis, clinical presentation, and treatment of these deficiencies are presented.

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References

  1. Al-Qattan MM, Yang Y, Kozin SH. Embryology of the upper limb. J Hand Surg Am. 2009;34:1340–50.

    Article  PubMed  Google Scholar 

  2. Al-Qattan MM. WNT pathways and upper limb anomalies. J Hand Surg Eur. 2011;36:9–22.

    Article  CAS  Google Scholar 

  3. Laufer E, Nelson CE, Johnson RL, Morgan BA, Tabin C. Sonic hedgehog and Fgf-4 act through a signaling cascade and feedback to integrate growth and patterning of the development of limb bud. Cell. 1994;79:993–1003.

    Article  CAS  PubMed  Google Scholar 

  4. Niswander L, Jeffrey S, Martin GR, Tickle C. A positive feedback loop coordinates growth and patterning in the vertebrate limb. Nature. 1994;37:609–12.

    Article  Google Scholar 

  5. Ahn K, Mishina Y, Hanks MC, Behringer RR, Crenshaw EB. BMPR-1A signaling is required for the formation of the apical ectodermal ridge dorsal-ventral patterning of the limb. Development. 2001;128:4449–61.

    CAS  PubMed  Google Scholar 

  6. Loomis CA, Harris E, Michand J, Wurst W, Hanks M, Jayver A. The mouse engrailed-1 gene and ventral limb patterning. Nature. 1996;382:360–3.

    Article  CAS  PubMed  Google Scholar 

  7. Riddle R, Ensini M, Nelson C, Tsuchida T, Jessel TM, Tabin C. Induction of the LIM homeobox gene Lmx1 by wnt7a establishes dorsal ventral pattern in the vertebrate limb. Cell. 1995;83:631–40.

    Article  CAS  PubMed  Google Scholar 

  8. Vogel A, Rodriguez C, Warnken W, Izpisna-Belmonte JC. Dorsal cell fate specified by chick Lmx1 during vertebrate limb development. Nature. 1995;387:716–20.

    Article  Google Scholar 

  9. Al-Qattan MM. Classification of dorsal and ventral dimelia in humans. J Hand Surg Eur. 2013;38(9):928–33. https://doi.org/10.1177/1753193413484671. [Epub ahead of print]

    Article  CAS  Google Scholar 

  10. Al-Qattan MM, Shamseldin HE, Al-Kuraya FS. Familial dorsalization of the skin of the proximal palm and the instep of the sole of the foot. Gene. 2012;500:216–9.

    Article  CAS  PubMed  Google Scholar 

  11. Al-Qattan MM, Kfoury H. Dorsal dimelia of a thumb. J Plast Reconstr Aesthet Surg. 2011;64:e177–80.

    Article  PubMed  Google Scholar 

  12. Rider MA. Congenital palmar nail syndrome. J Hand Surg Br. 1992;17:371–2.

    Article  CAS  PubMed  Google Scholar 

  13. Al-Qattan MM, Hassanain J, Hawary MB. Congenital palmar nail syndrome. J Hand Surg Br. 1997;22:674–5.

    Article  CAS  PubMed  Google Scholar 

  14. Al-Qattan MM, Al-Rabeeah A. Similarities between a conjoined nail and the palmar nail syndrome. J Hand Surg Br. 2000;25:8–10.

    Article  CAS  PubMed  Google Scholar 

  15. Al-Qattan MM, Al-Mazyed M, Shamseldin H, Al-Kuraya FS. Dorsal dimelia: report of two cases with an emphasis on the variation of phenotype expression and a search for candidate genes. J Hand Surg Eur. 2010;35:715–20.

    Article  CAS  Google Scholar 

  16. Kalisman M, Goldferg R, Ship AG. Dorsal skin and fingernail on the volar aspect of the hand: an unusual anatomic deformity. Plast Reconstr Surg. 1982;69:694–6.

    Article  CAS  PubMed  Google Scholar 

  17. Fattah A, Pickford MA. Dorsal dimelia in patau syndrome: a case report. J Hand Surg Eur. 2007;32:534–6.

    Article  CAS  Google Scholar 

  18. Shamseldin HE, Faden MA, Al-Ashram W, Al-Kuraya FS. Identification of a novel DLXS mutation in a family with autosomal recessive split hand and foot malformation. J Med Genet. 2012;49:16–20.

    Article  PubMed  Google Scholar 

  19. Egawa T. Congenital claw-like fingers and toes. Case report of two siblings. Plast Reconstr Surg. 1977;59:569–72.

    Article  CAS  PubMed  Google Scholar 

  20. Miura T. Two families with congenital nail anomalies: nail formation in ectopic areas. J Hand Surg Am. 1978;3:348–51.

    Article  CAS  PubMed  Google Scholar 

  21. Corona-Rivera JR, Corona-Rivera E, Fragoso-Herrera R, Nuno-Arana I, Loera-Castaneda V. Probable new syndrome in a Mexican family with congenital palmar polyonychia and post-axial limb defects. Am J Med Genet A. 2004;125:205–9.

    Article  Google Scholar 

  22. Alves GF, Poon E, Joh J, Salamao PR, Griffiths WA. Circumferential finger nail. Br J Dermatol. 1999;140:960–2.

    Article  CAS  PubMed  Google Scholar 

  23. Kiryu M, Huzita S, Saitou O. Congenital hypoplasia of the little finger associated with nail anomaly. Jpn J Plast Reconstr Surg. 1978;21:216–21.

    Google Scholar 

  24. Miura T. Cleft hand involving only the ring and small fingers. J Hand Surg Am. 1988;13:530–5.

    Article  CAS  PubMed  Google Scholar 

  25. Keret D, Ger E. Double fingernails on the small fingers. J Hand Surg Am. 1987;12:608–10.

    Article  CAS  PubMed  Google Scholar 

  26. Kikuchi I, Ono T, Ogata K. Ectopic nail: case reports. Plast Reconstr Surg. 1978;61:781–3.

    Article  CAS  PubMed  Google Scholar 

  27. Kinoshita Y, Kojima T, Uchida M, Kurimoto S. Calm nail deformity of the little finger. Plast Reconstr Surg. 1993;91:158–61.

    Article  CAS  PubMed  Google Scholar 

  28. Thoma A, Alexopoulou I. Circumferential little finger nail plate. Can J Plast Surg. 1995;3:161–2.

    Google Scholar 

  29. Al-Qattan MM. Dorsal dimelia of the index finger in a patient with absent thumb and radial club hand. Ann Plast Surg. 2011;67:90–1.

    Article  CAS  PubMed  Google Scholar 

  30. Al-Qattan MM. Fanconi anemia with concurrent thumb polydactyly and dorsal dimelia. A case report with discussion of embryology. Ann Plast Surg. 2013;70:116–8.

    Article  CAS  PubMed  Google Scholar 

  31. Kawakami Y, Marti M, Kawakami H, Itou J, Quach T, Johnson A, et al. Islet 1 mediated activation of the ß-catenin pathway is necessary for hind limb initiation in mice. Development. 2011;138:4465–73.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  32. Parr BA, McMahon AP. Dorsalizing signal WNT7A required for normal polarity of D-V and A-P axes of mouse limb. Nature. 1995;374:350–3.

    Article  CAS  PubMed  Google Scholar 

  33. Kantaputra PN, Mundle S, Spirathomsawat W. A novel homozygous Arg 222 TRP missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am J Med Genet A. 2010;152:2832–7.

    Article  CAS  Google Scholar 

  34. Woods CG, Sticker S, Seeman 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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  35. Garavelli L, Wischeiyer A, Rosato S, Gelmini C, Reverberi S, Sassi S, et al. Al-Awadi-Raas-Rothschild (Limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogenecity and nasological delineation. Am J Med Genet A. 2011;155:332–6.

    Article  CAS  Google Scholar 

  36. Al-Qattan MM, Al-Balwi M, Eyaid W, Al-Abdulkarim I, Al-Turki S. Congenital duplication of the palm syndrome: gene analysis and the molecular basis of its clinical features. J Hand Surg Eur. 2009;34:247–51.

    Article  CAS  Google Scholar 

  37. Eyaid W, Al-Qattan MM, Fetaini N, Al BM. A novel homozygous missense mutation (CGLOG > A, P.Gly 204 Ser) in the WNT7A gene causes tetra-amelia in two Saudi families. Am J Med Genet A. 2011;155:599–604.

    Article  CAS  Google Scholar 

  38. Al-Qattan MM. Congenital duplication of the palm in a patient with multiple anomalies. J Hand Surg Br. 2003;28:276–9.

    Article  CAS  PubMed  Google Scholar 

  39. Al-Qattan MM, Eyaid W, Al-Balwi M. Congenital duplication of the palm syndrome. Ann Plast Surg. 2007;59:341–3.

    Article  CAS  PubMed  Google Scholar 

  40. Al-Qattan MM, Maddirevula S, Alkuraya FS. A de novo TBX3 mutation presenting as dorsalization of the little fingers: a forme fruste phenotype of ulnar-mammary syndrome. Eur J Med Genet. 2019; https://doi.org/10.1016/j.ejmg.2019.01.005.

  41. Vogt J, Ryan E, Tischkowitz MD, Reardon W, Brueton LA. The tale of a nail sign in chromosome 4q34 deletion syndrome. Clin Dysmorphol. 2006;15(3):127–32.

    Article  PubMed  Google Scholar 

  42. Osterwalder M, Speziale D, Shoukry M, Mohan R, Ivanek R, Kohler M, et al. HAND2 targets define a network of transcriptional regulators that compartmentalize the early limb bud mesenchyme. Develop Cell. 2014;31(3):345–57.

    Article  CAS  Google Scholar 

  43. Santos SC, Pardono E, da Costa MIF, de Melo AN, Graciani Z, de Albuquerque E, et al. A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects. Am J Med Genet. 2008;146A:3126–31.

    Article  PubMed  Google Scholar 

  44. Alves LU, Santos S, Musso CM, Ezquina SA, Opitz JM, Kok F, Otto PA, et al. Santos syndrome is caused by mutation in the WNT7A gene. J Hum Genet. 2017;62(12):1073–8.

    Article  CAS  PubMed  Google Scholar 

  45. Al-Qattan MM. Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome. Am J Med Genet A. 2013;161A(9):2274–80.

    Article  CAS  PubMed  Google Scholar 

  46. Al-Qattan MM. WNT pathways and upper limb anomalies. J Hand Surg Eur Vol. 2011;36(1):9–22.

    Article  CAS  PubMed  Google Scholar 

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Acknowledgments

The College of Medicine Research Center, Deanship of Scientific Research, King Saud University, Riyadh, Saudi Arabia, supported research by the author on the topic.

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Authors and Affiliations

  1. Department of Surgery, King Saud University, Riyadh, Saudi Arabia

    Mohammad M. Al-Qattan

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  1. Mohammad M. Al-Qattan
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Editors and Affiliations

  1. Colchester, VT, USA

    Donald R. Laub Jr.

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Al-Qattan, M.M. (2021). Dorsal–Ventral Deficiency. In: Laub Jr., D.R. (eds) Congenital Anomalies of the Upper Extremity. Springer, Cham. https://doi.org/10.1007/978-3-030-64159-7_13

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  • DOI: https://doi.org/10.1007/978-3-030-64159-7_13

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-64158-0

  • Online ISBN: 978-3-030-64159-7

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