Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study

BMC Musculoskeletal Disorders

Hermien E K de Walle⁵  Heleen A Reinders-Messelink¹  Pieter U Dijkstra⁴  Jorieke E H Bergman⁵  Anthonie J van Essen²  Corry K van der Sluis³  Ecaterina Vasluian³ 

[1] Rehabilitation Center ‘Revalidatie Friesland’, Beetsterzwaag, The Netherlands;Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands;Department of Rehabilitation Medicine, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands;Department of Oral and Maxillofacial Surgery, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands;Department of Genetics, EUROCAT Registration of Congenital Anomalies, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands

关键词: Epidemiology;    Prevalence;    Congenital abnormalities;    Congenital limb deformities;   

Others  :  1129164
DOI  :  10.1186/1471-2474-14-323

 received in 2013-07-26, accepted in 2013-11-12,  发布年份 2013

【 摘 要 】

Background

Reported birth prevalences of congenital limb defects (CLD) vary between countries: from 13/10,000 in Finland for the period 1964–1977 to 30.4/10,000 births in Scotland from 1964–1968. Epidemiological studies permit the timely detection of trends in CLD and of associations with other birth defects. The aim of this study is to describe the birth prevalence of CLD in the northern Netherlands.

Methods

In a population-based, epidemiological study we investigated the birth prevalences of CLD for 1981–2010. Data were collected by the European Surveillance of Congenital Anomalies in the northern Netherlands (EUROCAT-NNL). We excluded malpositions, club foot, and dislocation/dysplasia of hips or knees. Trends were analysed for the 19-year period 1992–2010 using χ² tests, as well as CLD association with anomalies affecting other organs.

Results

The birth prevalence of CLD was 21.1/10,000 births for 1981–2010. There was an overall decrease in non-syndromic limb defects (P = 0.023) caused by a decrease in the prevalence of non-syndromic syndactyly (P < 0.01) in 1992–2010. Of 1,048 children with CLD, 55% were males, 57% had isolated defects, 13% had multiple congenital anomalies (MCA), and 30% had a recognised syndrome. The upper:lower limb ratio was 2:1, and the left:right side ratio was 1.2:1. Cardiovascular and urinary tract anomalies were common in combination with CLD (37% and 25% of cases with MCA). Digestive-tract anomalies were significantly associated with CLD (P = 0.016).

Conclusions

The birth prevalence of CLD in the northern Netherlands was 21.1/10,000 births. The birth prevalence of non-syndromic syndactyly dropped from 5.2/10,000 to 1.1/10,000 in 1992–2010.

【 授权许可】

   
2013 Vasluian et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

【 参考文献 】

• [1]Day HJB: The ISO/ISPO classification of congenital limb deficiency. Prosthet Orthot Int 1991, 15(2):67-69.
• [2]EUROCAT Guide 3 (2nd Ed): For the Description and Classification of Congenital Limb Defects. http://www.eurocat-network.eu/content/EUROCAT-Guide-3.pdf webcite
• [3]Gold NB, Westgate MN, Holmes LB: Anatomic and etiological classification of congenital limb deficiencies. Am J Med Genet A 2011, 155A(6):1225-1235.
• [4]Tayel SM, Fawzia MM, Al Naqeeb NA, Gouda S, Al Awadi SA, Naguib KK: A morpho-etiological description of congenital limb anomalies. Ann Saudi Med 2005, 25(3):219-227.
• [5]Froster UG, Baird PA: Maternal factors, medications, and drug exposure in congenital limb reduction defects. Environ Health Perspect 1993, 101(Suppl 3):269-274.
• [6]Holmes LB: Teratogen-induced limb defects. Am J Med Genet 2002, 112(3):297-303.
• [7]European Surveillance of Congenital Anomalies. http://www.eurocat-network.eu webcite
• [8]International Clearinghouse for Birth Defects Surveillance and Research. http://www.icbdsr.org webcite
• [9]Aro T, Heinonen OP, Saxen L: Incidence and secular trends of congenital limb defects in Finland. Int J Epidemiol 1982, 11(3):239-244.
• [10]Rogala EJ, Wynne-Davies R, Littlejohn A, Gormley J: Congenital limb anomalies: frequency and aetiological factors. Data from the Edinburgh Register of the Newborn (1964–68). J Med Genet 1974, 11(3):221-233.
• [11]Bermejo-Sanchez E, Cuevas L, Amar E, Bakker MK, Bianca S, Bianchi F, Canfield MA, Castilla EE, Clementi M, Cocchi G, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martinez-Frias ML: Amelia: a multi-center descriptive epidemiologic study in a large dataset 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(4):288-304.
• [12]Bermejo-Sanchez E, Cuevas L, Amar E, Bianca S, Bianchi F, Botto LD, Canfield MA, Castilla EE, Clementi M, Cocchi G, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martinez-Frias ML: 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(4):305-320.
• [13]Calzolari E, Manservigi D, Garani GP, Cocchi G, Magnani C, Milan M: Limb reduction defects in Emilia Romagna, Italy: epidemiological and genetic study in 173,109 consecutive births. J Med Genet 1990, 27(6):353-357.
• [14]Ekblom AG, Laurell T, Arner M: Epidemiology of congenital upper limb anomalies in 562 children born in 1997 to 2007: a total population study from Stockholm. Sweden. J Hand Surg 2010, 35(11):1742-1754.
• [15]McGuirk CK, Westgate MN, Holmes LB: Limb deficiencies in newborn infants. Pediatrics 2001, 108(4):E64.
• [16]Rijnders LJ, Boonstra AM, Groothoff JW, Cornel MC, Eisma WH: Lower limb deficient children in The Netherlands: epidemiological aspects. Prosthet Orthot Int 2000, 24(1):13-18.
• [17]Rosano A, Botto LD, Olney RS, Khoury MJ, Ritvanen A, Goujard J, Stoll C, Cocchi G, Merlob P, Mutchinick O, Cornel MC, Castilla EE, Martinez-Frias ML, Zampino G, Erickson JD, Mastroiacovo P: Limb defects associated with major congenital anomalies: clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems. Am J Med Genet 2000, 93(2):110-116.
• [18]Smith ES, Dafoe CS, Miller JR, Banister P: An epidemiological study of congenital reduction deformities of the limbs. Br J Prev Soc Med 1977, 31(1):39-41.
• [19]Stoll C, Calzolari E, Cornel M, Garcia-Minaur S, Garne E, Nevin N, Ten Kate L: A study on limb reduction defects in six European regions. Ann Genet 1996, 39(2):99-104.
• [20]Koskimies E, Lindfors N, Gissler M, Peltonen J, Nietosvaara Y: Congenital upper limb deficiencies and associated malformations in Finland: a population-based study. J Hand Surg 2011, 36(6):1058-1065.
• [21]Froster-Iskenius UG, Baird PA: Amelia: incidence and associated defects in a large population. Teratology 1990, 41(1):23-31.
• [22]Froster-Iskenius UG, Baird PA: Limb reduction defects in over one million consecutive livebirths. Teratology 1989, 39(2):127-135.
• [23]Ephraim PL, Dillingham TR, Sector M, Pezzin LE, Mackenzie EJ: Epidemiology of limb loss and congenital limb deficiency: a review of the literature. Arch Phys Med Rehabil 2003, 84(5):747-761.
• [24]Stoll C, Alembik Y, Dott B, Roth MP: Risk factors in limb reduction defects. Paediatr Perinat Epidemiol 1992, 6(3):323-338.
• [25]Monango AD, Buitendijk SE: Congenital malformations in The Netherlands 1997–2007, report based on Prenatal Registration Netherlands. Netherlands Organisation for Applied Scientific Research 2009, 112:46. KvL/P&Z 2009
• [26]EUROCAT Guide 1.3: Instructions for the Registration and Surveillance of Congenital Anomalies. http://www.eurocat-network.eu/content/EUROCAT-Guide-1.3.pdf webcite
• [27]Prevalence of congenital malformations in the Northern Netherlands 1981–2007. http://www.rug.nl/umcg/faculteit/disciplinegroepen/medischegenetica/eurocat/pdf/Prevalence_of_Congenital_Malformations_in_the_Northern_Netherlands_1981_2007.pdf webcite
• [28]Greenlees R, Neville A, Addor MC, Amar E, Arriola L, Bakker M, Barisic I, Boyd PA, Calzolari E, Doray B, Draper E, Vollset SE, Garne E, Gatt M, Haeusler M, Kallen K, Khoshnood B, Latos-Bielenska A, Martinez-Frias ML, Materna-Kiryluk A, Dias CM, McDonnell B, Mullaney C, Nelen V, O’Mahony M, Pierini A, Queisser-Luft A, Randrianaivo-Ranjatoelina H, Rankin J, Rissmann A, Ritvanen A, Salvador J, Sipek A, Tucker D, Verellen-Dumoulin C, Wellesley D, Wertelecki W: Paper 6: EUROCAT member registries: organization and activities. Birth Defects Res A Clin Mol Teratol 2011, 91(Suppl 1):S51-S100.
• [29]EUROCAT ICD9 (with BPA extension). http://www.eurocat-network.eu/content/EUROCAT-ICD9-with-BPA-Extension.pdf webcite
• [30]EUROCAT ICD10. http://www.eurocat-network.eu/content/EUROCAT-Q-Chapter-2008.pdf webcite
• [31]Manouvrier-Hanu S, Holder-Espinasse M, Lyonnet S: Genetics of limb anomalies in humans. Trends Genet 1999, 15(10):409-417.
• [32]EUROCAT Prevalence Tables. http://www.eurocat-network.eu/ACCESSPREVALENCEDATA/PrevalenceTables webcite
• [33]Schulman J, Edmonds LD, McClearn AB, Jensvold N, Shaw GM: Surveillance for and comparison of birth defect prevalences in two geographic areas–United States, 1983–88. MMWR CDC Surveill Summ 1993, 42(1):1-7.
• [34]Evans JA, Vitez M, Czeizel A: Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975–1984). Am J Med Genet 1994, 49(1):52-66.
• [35]Stoll C, Rosano A, Botto LD, Erickson D, Khoury MJ, Olney RS, Castilla EE, Cocchi G, Cornel MC, Goujard J, Bermejo E, Merlob P, Mutchinick O, Ritvanen A, Zampino G, Mastroiacovo P: On the symmetry of limb deficiencies among children with multiple congenital anomalies. Ann Genet 2001, 44(1):19-24.
• [36]Tables: Population dynamics; birth, death and migration per region. Central Bureau of Statistics. http://statline.cbs.nl/StatWeb/publication/default.aspx?DM=SLEN&PA=37422ENG&D1=0%2c4-5&D2=31-60&LA=EN&STB=T%2cG1&VW=T webcite
• [37]Giele H, Giele C, Bower C, Allison M: The incidence and epidemiology of congenital upper limb anomalies: a total population study. J Hand Surg Am 2001, 26(4):628-634.
• [38]Castilla EE, Lugarinho R, da Graca Dutra M, Salgado LJ: Associated anomalies in individuals with polydactyly. Am J Med Genet 1998, 80(5):459-465.
• [39]Jordan D, Hindocha S, Dhital M, Saleh M, Khan W: The epidemiology, genetics and future management of syndactyly. Open Orthop J 2012, 6:14-27.
• [40]Swanson AB, Swanson GD, Tada K: A classification for congenital limb malformation. J Hand Surg Am 1983, 8(5 Pt 2):693-702.
• [41]Kay HW, Day HJ, Henkel HL, Kruger LM, Lamb DW, Marquardt E, Mitchell R, Swanson AB, Willert HG: The proposed international terminology for the classification of congenital limb deficiencies. Dev Med Child Neurol Suppl 1975, 34(34):1-12.
• [42]Stoll C, Duboule D, Holmes LB, Spranger J: Classification of limb defects. Am J Med Genet 1998, 77(5):439-441.