Congenital lower limb deficiencies in Finland : Risk factors, prevalence, associated anomalies and treatment

In the 1950’s congenital limb deficiencies became well-recognized birth defect because of the use of thalidomide treating morning sickness in pregnant women. Despite of many studies the causation of many congenital limb deficiencies is mainly unknown. Upper and lower limb develop simultaneously during the organogenetic phase in early pregnancy (fourth to eight weeks of gestation). This is rapidly differentiating phase and therefore it is the phase most sensitive to teratogens causing major birth defects. Congenital lower limb reductions are rare but they are usually visible at birth and thus are well documented by registries. There are just a few population-based studies about the epidemiology of lower limb deficiencies. There are no population-based studies about the burden of hospital care of lower limb deficiencies to the healthcare system. The aim of this study was to describe risk factors for congenital limb reduction defects and also explore maternal medication use just before pregnancy and during the first trimester. The purpose was to find out features of congenital lower limb reduction defects and to determine the prevalence of congenital lower limb deficiencies and associated mortality and to identify patterns of associated anomalies. The aim was also to explore the impact, that children with lower limb reduction pose to health-care system. The data is based on registries maintained by the Finnish institute for health and welfare. We found that maternal pregestational diabetes, nulliparity and young and old maternal age increased the risk of congenital limb deficiencies. The use of progesterone and antiepileptics before pregnancy and during the first trimester had impact on the risk of congenital limb reductions. The total prevalence of congenital lower limb deficiencies was 2.8 per 10 000 births and the perinatal mortality was 78 per 1000 births. Almost half the cases with lower limb reductions had associated major anomalies The need of hospital care and the number of orthopedic procedures was markedly increased in the patients with congenital lower limb deficiency compared to whole pediatric population.  1950-luvulla alettiin käyttää raskaudenaikaiseen pahoinvointiin talidomidia, jonka seurauksena syntyi pahasti vaurioituneita lapsia, joilla oli mm. raajapuutoksia. Raajapuutoksien riskitekijöistä on tehty paljon tutkimuksia, mutta suurimmassa osassa tapauksia syy jää epäselväksi. Ylä- ja alaraajat muodostuvat raskauden aikana samanaikaisesti ns. organogeneettisen vaiheen aikana. Siinä vaiheessa tapahtuu nopeaa elinten erilaistumista, ja tämä vaihe on herkin erilaisten teratogeenien vaikutukselle. Teratogeenit ovat tekijöitä, jotka aiheuttavat synnynnäisiä poikkeavuuksia. Synnynnäiset alaraajapuutokset ovat harvinaisia, mutta usein ne ovat helposti tunnistettavia syntymän jälkeen. Niiden rekisteritiedot ovat luotettavia. On olemassa vain muutamia väestöpohjaisia tutkimuksia alaraajapuutosten epidemiologiasta. Kirjallisuudessa ei tunneta synnynnäisten alaraajapuutosten hoidon tarvetta eikä vaikutusta terveydenhuollolle. Tämän tutkimuksen tavoite oli selvittää synnynnäisten raajapuutosten liittyviä riskitekijöitä. Lisäksi selvitettiin äidin lääkkeiden käyttöä ennen raskautta ja raskauden ensimmäisen kolmanneksen aikana. Tutkimuksessa kartoitettiin myös synnynnäisten alaraajapuutosten tyypit, esiintyvyys, mortaliteetti sekä liitännäisanomaliat. Tavoitteena oli myös selvittää synnynnäisten alaraajapuutospotilaiden sairaalahoidon sekä kirurgisen hoidon tarve. Aineisto perustuu Terveyden- ja hyvinvoinnin laitoksen rekistereihin. Äidin ennen raskautta todettu diabetes, ensiraskaus ja äidin nuori, sekä korkea ikä lisäsivät raajapuutosten riskiä. Lisäksi äidin käyttämä progesteroni sekä epilepsialääkkeet nostivat raajapuutosten riskiä. Alaraajapuutosten kokonaisesiintyvyys oli 2.8 per 10 000 syntynyttä ja perinataalikuolleisuus 78 per 1000 syntynyttä. Melkein puolella alaraajapuutospotilaista todettiin jokin muu merkittävä synnynnäinen anomalia kuin raajapuutos. Alaraajapuutospotilaiden sairaalahoidon tarve ja ortopedisten toimenpiteiden määrä oli merkittävästi korkeampi verrattuna muuhun lapsipopulaatioon

Vertebral Body Tethering: Indications, Surgical Technique, and a Systematic Review of Published Results

Vertebral body tethering (VBT) represents a new surgical technique to correct idiopathic scoliosis using an anterior approach, spinal instrumentation with vertebral body screws, and a cable compressing the convexity of the curve. According to the Hueter-Volkmann principle, compression reduces and distraction increases growth on the growth plates. VBT was designed to modulate spinal growth of vertebral bodies and hence, the term ‘growth modulation’ has also been used. This review describes the indications and surgical technique of VBT. Further, a systematic review of published studies was conducted to critically evaluate the results and complications of this technique. In a total of 23 included studies on 843 patients, the preoperative main thoracic curve corrected from 49 to 23 degrees in a minimum 2 year follow-up. The complication rate of VBT was 18%. The results showed that 15% of VBT patients required reoperations for pulmonary or tether-related issues (10%) and less than 5% required conversion to spinal fusion. While the reported median-term results of VBT appear promising, long-term results of this technique are currently lacking

Vertebral Body Tethering: Indications, Surgical Technique, and a Systematic Review of Published Results

Vertebral body tethering (VBT) represents a new surgical technique to correct idiopathic scoliosis using an anterior approach, spinal instrumentation with vertebral body screws, and a cable compressing the convexity of the curve. According to the Hueter-Volkmann principle, compression reduces and distraction increases growth on the growth plates. VBT was designed to modulate spinal growth of vertebral bodies and hence, the term ‘growth modulation’ has also been used. This review describes the indications and surgical technique of VBT. Further, a systematic review of published studies was conducted to critically evaluate the results and complications of this technique. In a total of 23 included studies on 843 patients, the preoperative main thoracic curve corrected from 49 to 23 degrees in a minimum 2 year follow-up. The complication rate of VBT was 18%. The results showed that 15% of VBT patients required reoperations for pulmonary or tether-related issues (10%) and less than 5% required conversion to spinal fusion. While the reported median-term results of VBT appear promising, long-term results of this technique are currently lacking

Vertebral Body Tethering : Indications, Surgical Technique, and a Systematic Review of Published Results

Vertebral body tethering (VBT) represents a new surgical technique to correct idiopathic scoliosis using an anterior approach, spinal instrumentation with vertebral body screws, and a cable compressing the convexity of the curve. According to the Hueter-Volkmann principle, compression reduces and distraction increases growth on the growth plates. VBT was designed to modulate spinal growth of vertebral bodies and hence, the term 'growth modulation' has also been used. This review describes the indications and surgical technique of VBT. Further, a systematic review of published studies was conducted to critically evaluate the results and complications of this technique. In a total of 23 included studies on 843 patients, the preoperative main thoracic curve corrected from 49 to 23 degrees in a minimum 2 year follow-up. The complication rate of VBT was 18%. The results showed that 15% of VBT patients required reoperations for pulmonary or tether-related issues (10%) and less than 5% required conversion to spinal fusion. While the reported median-term results of VBT appear promising, long-term results of this technique are currently lacking.Peer reviewe

Distal Femoral Focal Deficiency

Distal femoral focal deficiency is an extremely rare type of congenital femoral deficiency that comprises hypoplasia of the distal femur, with a normally developed hip. We represent a unique case of distal femoral hypoplasia and deficiency of knee extensors, childhood follow-up and final treatment with exarticulation, and a comparison with previous literature.Peer reviewe

Amelia and phocomelia in Finland : Characteristics and prevalences in a nationwide population-based study

Background Amelia and phocomelia represent severe limb reduction defects. Specific epidemiologic data on these defects are scarce. We conducted a descriptive analysis of prevalence data in Finland during 1993-2008 to clarify the epidemiology nationwide in a population-based register study. We hypothesized that increasing maternal age would affect the total prevalence of each disorder. Materials and Methods We collected information on all fetuses and infants affected by amelia and phocomelia during 1993-2008 from the National Register of Congenital Malformations in Finland. The clinical, laboratory, autopsy, and imaging data were re-evaluated where available for all cases found. Results A total of 23 amelia and 7 phocomelia patients were identified. Thalidomide was not an etiological factor in any of the cases. The total prevalence of amelia was 2.43 per 100,000 births. The live birth prevalence was 0.63 per 100,000 live births. The total prevalence of phocomelia was 0.74 per 100,000 births, and the live birth prevalence was 0.53 per 100,000 live births. Infant mortality in amelia and phocomelia was 67% and 60%, respectively. Conclusions Infant mortality is high among amelia and phocomelia. Most cases had other major associated anomalies, but syndromic amelia cases were rare. Total prevalences were higher than previously reported and showed an increase in prevalence toward the end of the study period. The percentage of elective terminations of pregnancy for these disorders is high. While isolated cases are rare, they most likely present a better prognosis. Thus, correct diagnosis is essential in counseling for possible elective termination.Peer reviewe

Perioperative Risk Factors for Bleeding in Adolescents Undergoing Pedicle Screw Instrumentation for Scoliosis

Progressive scoliosis eventually leads to extensive spinal fusion surgery, which carries a risk for significant bleeding. Neuromuscular scoliosis (NMS) patients have an additional inherent risk of major perioperative bleeding. The purpose of our research was to investigate the risk factors for measured (intraoperative, drain output) and hidden blood loss related to pedicle screw instrumentation in adolescents, divided into adolescent idiopathic scoliosis (AIS) and NMS patient groups. A retrospective cohort study with prospectively collected data of consecutive AIS and NMS patients undergoing segmental pedicle screw instrumentation at a tertiary level hospital between 2009 and 2021 was conducted. In total, 199 AIS (mean age 15.8 years, 143 females) and 81 NMS patients (mean age 15.2 years, 37 females) were included in the analysis. In both groups, levels fused, increased operative time, and smaller or larger size of erythrocytes were associated with perioperative blood loss (p < 0.05 for all correlations). In AIS, male sex (p < 0.001) and the number of osteotomies correlated with more drain output. In NMS, levels fused correlated with drain output, p = 0.00180. In AIS, patients’ lower preoperative MCV levels (p = 0.0391) and longer operation times, p = 0.0038, resulted into more hidden blood loss, but we did not find any significant risk factors for hidden blood loss in NMS patients

Vertebral Body Tethering: Indications, Surgical Technique, and a Systematic Review of Published Results

Vertebral body tethering (VBT) represents a new surgical technique to correct idiopathic scoliosis using an anterior approach, spinal instrumentation with vertebral body screws, and a cable compressing the convexity of the curve. According to the Hueter-Volkmann principle, compression reduces and distraction increases growth on the growth plates. VBT was designed to modulate spinal growth of vertebral bodies and hence, the term 'growth modulation' has also been used. This review describes the indications and surgical technique of VBT. Further, a systematic review of published studies was conducted to critically evaluate the results and complications of this technique. In a total of 23 included studies on 843 patients, the preoperative main thoracic curve corrected from 49 to 23 degrees in a minimum 2 year follow-up. The complication rate of VBT was 18%. The results showed that 15% of VBT patients required reoperations for pulmonary or tether-related issues (10%) and less than 5% required conversion to spinal fusion. While the reported median-term results of VBT appear promising, long-term results of this technique are currently lacking

Congenital abdominal wall defects and cryptorchidism : a population-based study

Purpose Several studies have reported high prevalence of undescended testis (UDT) among boys with congenital abdominal wall defects (AWD). Due to rarity of AWDs, however, true prevalence of testicular maldescent among these boys is not known. We conducted a national register study to determine the prevalence of UDT among Finnish males with an AWD. Methods All male infants with either gastroschisis or omphalocele born between Jan 1, 1998 and Dec 31, 2015 were identified in the Register of Congenital Malformations. The data on all performed operations were acquired from the Care Register for Health Care. The register data were examined for relevant UDT diagnosis and operation codes. Results We identified 99 males with gastroschisis and 89 with omphalocele. UDT was diagnosed in 10 (10.1%) infants with gastroschisis and 22 (24.7%) with omphalocele. Majority of these required an operation; 8/99 (8.1%) gastroschisis and 19/89 (21.3%) omphalocele patients. UDT is more common among AWD patients than general population with the highest prevalence in omphalocele. Conclusions Cryptorchidism is more common among boys with an AWD than general population. Furthermore, omphalocele carries significantly higher risk of UDT and need for orchidopexy than gastroschisis. Due to high prevalence testicular maldescent, careful follow-up for UDT is recommended.Peer reviewe

Intraoperative 3D Imaging Reduces Pedicle Screw Related Complications and Reoperations in Adolescents Undergoing Posterior Spinal Fusion for Idiopathic Scoliosis : A Retrospective Study

Widely used surgical treatment for adolescent idiopathic scoliosis (AIS) is posterior spinal fusion using pedicle screw instrumentation (PSI). Two-dimensional (2D) or three-dimensional (3D) navigation is used to track the screw positioning during surgery. In this study, we evaluated the screw misplacement, complications, and need for reoperations of intraoperative 3D as compared to 2D imaging in AIS patients. There were 198 adolescents, of which 101 (51%) were evaluated with 2D imaging and 97 (49%) with 3D imaging. Outcome parameters included radiographic correction, health-related quality of life (HRQOL), complications, and reoperations. The mean age was 15.5 (SD 2.1) years at the time of the surgery. Forty-four (45%) patients in the 3D group and 13 (13%) patients in the 2D group had at least one pedicle screw repositioned in the index operation (p < 0.001). Six (6%) patients in the 2D group, and none in the 3D group had a neurological complication (p = 0.015). Five (5%) patients in the 2D group and none in the 3D group required reoperation (p = 0.009). There were no significant differences in HRQOL score at two-year follow-up between the groups. In conclusion, intraoperative 3D imaging reduced pedicle screw-related complications and reoperations in AIS patients undergoing PSI as compared with 2D imaging.Peer reviewe