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

BackgroundReported 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.MethodsIn 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.ResultsThe 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).ConclusionsThe 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.

[1]  H. Day The ISO/ISPO classification of congenital limb deficiency , 1991, Prosthetics and orthotics international.

[2]  A. Czeizel,et al.  Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984). , 1994, American journal of medical genetics.

[3]  E. Garne,et al.  A study on limb reduction defects in six European regions. , 1996, Annales de genetique.

[4]  David Tucker,et al.  Paper 6: EUROCAT member registries: organization and activities. , 2011, Birth defects research. Part A, Clinical and molecular teratology.

[5]  M. Holder-Espinasse,et al.  Genetics of limb anomalies in humans. , 1999, Trends in genetics : TIG.

[6]  F. Bianchi,et al.  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 , 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

[7]  L. Holmes,et al.  Anatomic and etiological classification of congenital limb deficiencies , 2011, American journal of medical genetics. Part A.

[8]  E. Castilla,et al.  Associated anomalies in individuals with polydactyly. , 1998, American journal of medical genetics.

[9]  E. Calzolari,et al.  Limb reduction defects in Emilia Romagna, Italy: epidemiological and genetic study in 173,109 consecutive births. , 1990, Journal of medical genetics.

[10]  J. Groothoff,et al.  Lower limb deficient children in the Netherlands: Epidemiological aspects , 2000, Prosthetics and orthotics international.

[11]  M. Khoury,et al.  On the symmetry of limb deficiencies among children with multiple congenital anomalies. , 2001, Annales de genetique.

[12]  G. Shaw,et al.  Surveillance for and comparison of birth defect prevalences in two geographic areas--United States, 1983-88. , 1993, MMWR. CDC surveillance summaries : Morbidity and mortality weekly report. CDC surveillance summaries.

[13]  D. Duboule,et al.  Classification of limb defects. , 1998, American journal of medical genetics.

[14]  L. Holmes Teratogen-induced limb defects. , 2002, American journal of medical genetics.

[15]  U. Froster-Iskenius,et al.  Amelia: incidence and associated defects in a large population. , 1990, Teratology.

[16]  A. Swanson,et al.  A classification for congenital limb malformation. , 1976, The Journal of hand surgery.

[17]  C. Bower,et al.  The incidence and epidemiology of congenital upper limb anomalies: a total population study. , 2001, The Journal of hand surgery.

[18]  L. Holmes,et al.  Limb deficiencies in newborn infants. , 2001, Pediatrics.

[19]  E. Mackenzie,et al.  Epidemiology of limb loss and congenital limb deficiency: a review of the literature. , 2003, Archives of physical medicine and rehabilitation.

[20]  M. Khoury,et al.  Limb defects associated with major congenital anomalies: clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems. , 2000, American journal of medical genetics.

[21]  P. Mastroiacovo,et al.  Fostering international collaboration in birth defects research and prevention: a perspective from the International Clearinghouse for Birth Defects Surveillance and Research. , 2006, American journal of public health.

[22]  P A Baird,et al.  Limb reduction defects in over one million consecutive livebirths. , 1989, Teratology.

[23]  U. Froster,et al.  Maternal factors, medications, and drug exposure in congenital limb reduction defects. , 1993, Environmental health perspectives.

[24]  F. Bianchi,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 , 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

[25]  L. Saxén,et al.  Incidence and secular trends of congenital limb defects in Finland. , 1982, International journal of epidemiology.

[26]  W. Khan,et al.  The Epidemiology, Genetics and Future Management of Syndactyly , 2012, The open orthopaedics journal.

[27]  Marianne Arner,et al.  Epidemiology of congenital upper limb anomalies in 562 children born in 1997 to 2007: a total population study from stockholm, sweden. , 2010, The Journal of hand surgery.

[28]  E. S. Smith,et al.  An epidemiological study of congenital reduction deformities of the limbs. , 1977, British journal of preventive & social medicine.

[29]  E J Rogala,et al.  Congenital limb anomalies: frequency and aetiological factors: Data from the Edinburgh Register of the Newborn (1964-68) , 1974, Journal of medical genetics.

[30]  C. Stoll,et al.  Risk factors in limb reduction defects. , 1992, Paediatric and perinatal epidemiology.

[31]  M. Gissler,et al.  Congenital upper limb deficiencies and associated malformations in Finland: a population-based study. , 2011, The Journal of hand surgery.

[32]  K. Naguib,et al.  A morpho-etiological description of congenital limb anomalies , 2005, Annals of Saudi medicine.