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Table 4 Anomalies in other organ systems occurring with congenital limb defects a

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

Anomalies Polydactyly Syndactyly Total reduction defects Other CLD Total CLDc
(n = 45) (n = 29) (n = 42) (n = 34) (n = 135)
  Totalb, n(%) Preax Postax n(%) Totalb, n(%) Transv Preax Postax Intercal Total, n(%) n(%)
CNS and neural tube defects 6 (4.4) 1 4 8 (5.9) 10 (7.4) 7 5 0 0 6 (4.4) 27 (20.0)
   Hydrocephaly 1 (0.7) 0 0 5 (3.7) 3 (2.2) 2 2 0 0 3 (2.2) 10 (7.4)
   Microcephaly 0 0 0 1 (0.7) 4 (3.0) 3 2 0 0 0 4 (3.0)
Eye 0 0 0 5 (3.7) 2 (1.5) 1 0 1 0 3 (2.2) 9 (6.7)
Ear 2 (1.5) 1 1 1 (0.7) 1 (0.7) 1 0 0 0 1 (0.7) 4 (3.0)
Cardiovascular 19 (14.1) 9 9 7 (5.2) 16 (11.9) 9 6 1 2 17 (12.6) 50 (37.0)
   Tetralogy of Fallot 2 (1.5) 2 0 0 2 (1.5) 2 0 0 0 2 (1.5) 6 (4.44)
   Atrium septum defects 1 (0.7) 1 0 1 (0.7) 3 (2.2) 2 1 0 0 3 (2.2) 7 (5.2)
   Ventricular septum defects 8 (5.9) 4 3 4 (3.0) 6 (4.4) 2 3 1 2 6 (4.4 19 (14.1)
   Coarctation aortae 2 (1.5) 0 2 0 1 (0.7) 0 1 0 0 1 (0.7) 4 (3.0)
Respiratory 8 (5.9) 2 4 3 (2.2) 5 (3.7) 2 3 0 0 6 (4.4) 19 (14.1)
   Choanal atresia 3 (2.2) 0 2 0 0 0 0 0 0 0 3 (2.2)
   Lung hypoplasia 1 (0.7) 0 0 1 (0.7) 0 0 0 0 0 4 (3.0) 5 (3.7)
Clefts 7 (5.2) 2 4 5 (3.7) 3 (2.2) 1 2 0 0 2 (1.5) 15 (11.1)
   Cleft palate 3 (2,2) 0 3 3 (2.2) 2 (1.5) 1 1 0 0 1 (0.7) 8 (5.9)
   Cleft lip 2 (1.5) 0 1 0 1 (0.7) 0 1 0 0 0 3 (2.2)
Digestive 8 (5.9) 1 6 3 (2.2) 14 (10.4) 8 5 1 0 3 (2.2) 25 (18.5)
   Malformations of oesophagus 0 0 0 0 4 (3.0) 2 0 0 0 0 4 (3.0)
   Atresia/stenosis large intestine 2 (1.5) 0 2 0 5 (3.7) 3 2 0 0 0 7 (5.2)
   Anorectal atresia 2 (1.5) 0 2 0 5 (3.7) 3 2 0 0 0 7 (5.2)
Genital 6 (4.4) 0 6 3 (2.2) 10 (7.4) 6 4 0 0 4 (3.0) 23 (17.0)
   Female 1 (0.7) 0 1 0 4 (3.0) 1 2 0 0 0 5 (3.7)
   Male 5 (3.7) 0 5 3 (2.2) 5 (3.7) 3 1 0 0 4 (3.0) 17 (12.6)
   Hypospadias 4 (3.0) 0 4 3 (2.2) 3 (2.2) 2 1 0 0 2 (1.5) 12 (8.9)
Urinary 6 (4.4) 1 3 10 (7.4) 13 (9.6) 6 6 1 1 8 (5.9) 34 (25.2)
   Renal agenesis (uni/bilateral) 3 (2.2) 1 1 1 (0.7) 7 (5.2) 5 3 1 0 1 (0.7) 12 (8.9)
   Cystic kidney 0 0 0 1 (0.7) 3 (2.2) 1 2 0 1 1 (0.7) 5 (3.7)
   Potter sequence 0 0 0 1 (0.7) 2 (1.5) 1 2 0 0 1 (0.7) 4 (3.0)
   Hydronephrosis 1 (0.7) 0 0 2 (1.5) 0 0 0 0 0 2 (1.5) 5 (3.7)
   Horseshoe kidney 0 0 0 1 (0.7) 1 (0.7) 0 0 0 0 3 (2.2) 4 (3.0)
Abdominal wall defects 2 (1.5) 0 1 0 1 (0.7) 1 0 0 0 2 (1.5) 5 (3.7)
   Omphalocele 1 (0.7) 0 1 0 1 (0.7) 1 0 0 0 2 (1.5) 4 (3.0)
Other 4 (3.0) 2 2 3 (2.2) 2 (1.5) 2 0 0 0 4 (3.0) 12 (8.9)
  1. Abbreviations and notations: CLD–congenital limb defects, CNS–central nervous system, Transv–transversal, Preax–preaxial, Postax–postaxial, Intercal–intercalary, n–number of children with CLD.
  2. aOnly cases with multiple congenital anomalies (including a limb defect) were included because genetic abnormalities or syndromes have particular associations [17]. General categories and examples of anomalies occurring with CLD were given.
  3. bNumbers do not always add up due to multiple CLD in some cases or due to lack of information on subcategories of CLD (e.g. preaxial, postaxial). Percentages are calculated from the total number of children with multiple congenital anomalies and CLD (n = 135).
  4. cIn addition to one or several major non-limb defects, 24 cases (17.8%) also had a malposition, or a clubfoot, or hip dysplasia/dislocation (polydactyly n = 1, syndactyly n = 8, reduction defects n = 9, other CLD n = 12).