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A case of congenital bilateral lower limb deformities is presented. Diastasis of the distal tibia and fibula has the appearance of a severe clubfoot. Recognition of this condition and early surgical treatment are important. Tibial aplasia is best treated by disarticulation and early mobilization.
The Ilizarov technique is a method of stimulating new bone and/or soft tissue growth at the rate of 1 mm per day. This technique was developed in the former Soviet Union in the early 1950s to stimulate limb lengthening, correct malaligned appendicular skeletal deformities, heal nonunions and close soft tissue defects. This procedure has been used in the United States less than 10 years. While Professor Ilizarov recognized that his technique could be used to treat foot pathology such as clubfoot, physicians continue to expand the applications for the Ilizarov procedure in treating complex foot pathologies.
Intra-uterine growth retardation and limb deformities, resembling clubfoot, were produced by tubocuararine chloride, and by toxiferine, when administered to the rat fetus between the 16th and 19th day of gestation. These effects were associated in some fetuses, but were not sex-linked. Fetuses in the middle part of the uterine horn were observed to be more vulnerable. Placentae of the affected fetuses were smaller in size and weight at birth. Direct toxic effects of the drug on the fetus and/or on the placenta, along with immobilization of the fetus in utero due to the neuromuscular blocking action of the drugs, seem responsible for these effects. These finding warrant proper caution and care in administering such drugs to women, even as late as the third trimester of pregnancy.
Progressive ankle valgus is an insidious deformity that may develop during childhood due to a variety of etiologies including neuromuscular disease, skeletal dysplasia, chromosomal anomalies, and clubfoot. This may be concomitant with, or mistaken for, hindfoot valgus. The surgical options for treatment include supramalleolar osteotomy or hemiepiphysiodesis of the medial distal tibial physis. We report the rationale and technique of retarding medial malleolar growth by means of inserting a single 4.5-mm vertical screw. In a population of 31 children (50 feet), we have observed satisfactory improvement of ankle valgus with low morbidity and without permanent physeal closure. This represents a safe, predictable, and effective solution for children who present with progressive and symptomatic ankle valgus.
In a prospective study of 2,401 newborns, the incidence of foot deformities was 4%, of which three fourths were various forms of adductus anomalies. At age 16 years, the children with a foot deformity and a random sample of those with normal feet as newborns were examined by dynamic foot pressure (EMED) and gait analysis (Vifor). The natural course of all congenital foot deformities, except clubfoot, was favorable. The importance of monitoring the children during the entire growth period is shown by the fact that at age 6 years, 87%, and at 16 years, 95% of the adductus deformities had resolved.
Six cases of congenital dislocation of the knee (CDK) reduced spontaneously or with minimal treatment were investigated. Reduction was achieved from 4 days to 3 months after birth. Clinical results were good, although in four cases, hyperextension < or = 20 degrees persisted. In view of the perinatal complications and associated anomalies, CDK reduced with no or minimal treatment is supposed to be a category of congenital postural deformity. We believe that it is advisable to wait 1 month for spontaneous reduction of CDK in cases not associated with clubfoot, arthrogryposis multiplex congenita, and Larsen's syndrome.
Several common congenital limb disorders are characterized by normal tissue differentiation but abnormal somatic growth. These include: idiopathic clubfoot, idiopathic leg length discrepancy, hemi-atrophy and hemi-hypertrophy. Both clinical and research studies have suggested that peripheral nerves may be important in regulating somatic growth of limb tissues. To investigate the hypothesis that peripheral nerves convey trophic substances to mesenchymal tissues that are involved in the regulation of growth, we developed an in vitro assay to assess the effect of fractions of peripheral nerve on myoblast and chondroblast growth and differentiation in a mammalian (rat) system. Whole rat sciatic nerve extract was fractionated by ammonium sulfate precipitation and by affinity chromatography. Concavalin A chromatography resolved whole nerve extract into a glycoprotein and a non-glycoprotein fraction. Serial ammonium sulfate precipitation yielded three pellet fractions designated as 35%, 70%, and 100% pellets; corresponding to ammonium sulfate concentrations of 0 to 35%, 35 to 70%, and 70 to 100% saturation, respectively. Dialyzed solutions of these pellets as well as the fractions from Concavalin A chromatography were assayed for biological activity in micromass cultures of rat limb bud mesenchyme, which allowed assessment of both myoblast and chondroblast stimulation. Stimulation of protein synthesis and myoblast proliferation (as measured by MF20 staining) occurred with both 70% and 100% ammonium sulfate fractions. Stimulation of chondroblasts (as measured by the number of alcian blue staining nodules) occurred with the 35% and 100% fractions. The glycoprotein fraction from the affinity chromatography stimulated protein synthesis and myoblast proliferation and inhibited chondroblast development. Stimulation of chondroblasts was seen with the non-glycoprotein fraction. No effect on protein synthesis, myoblast proliferation or chondroblast proliferation was found in cultures treated with rat transferrin (transferrin has been reported to stimulate myoblasts in avian culture systems).
The authors report the data concerning 2295 women tested for toxoplasmosis immunodiagnosis, in the Department of Infectious and Tropical Diseases of "La Sapienza" University of Rome in the years 1993-1994. Four hundred eleven cases (17.9%) were positive for IgG only; 2 cases (0.1%) for IgM only; 15 cases (0.6%) for both IgG and IgM while 1867 cases (81.4%) were negative. 1668 women were pregnant. In this group 260 (15.6%) were positive for IgG only, 2 (0.1%) for IgM only, and 10 (10.6%) for both IgG and IgM; in one case there was a spontaneous absorption in the 10th week of pregnancy, in another case a still-birth in the 20th week with brain lesions; a child was born with phocomelia of the right arm and one with a clubfoot. While it is possible to explain the absorption and the still-birth with the toxoplasma infection, it is difficult to understand the causes of the abnormality of the limbs.
Congenital convex pes valgus is a rare, complex and heterogeneous anomaly of the foot, which is difficult to treat. From 1985 to 1994, we treated 14 patients (20 feet) with this deformity. There were six boys and eight girls. Six patients had bilateral involvement. Their ages at the time of surgery ranged from 4 to 32 months (mean, 13 mo). In eight patients (10 feet), the etiology was arthrogryposis multiplex congenita. The eitiology was unknown in six patients (10 feet). Associated problems included hip dislocation in seven patients, flexion or extension contractures of the knee in six patients, and clubfoot deformity in three patients. One patient had undergone previous surgery for release of a knee contracture. To achieve a plantigrade and balanced foot, all patients had one-stage surgical open reduction and circumferential release for the correction of deformities. At a minimum of 2 years following surgery, 11 patients (16 feet) had satisfactory results determined by a 10-point evaluation system based on both clinical and radiographic features. Satisfactory results and ambulatory prognosis were related to the etiology and severity of each patient's condition. Two patients (two feet) had scars with poor cosmetic appearance and two patients (three feet) had inadequate correction. We concluded that with adequate soft tissue release and complete talocalcaneonavicular joint reduction in one-stage surgery, proper postoperative maintenance, and physical therapy, satisfactory results in the treatment of congenital convex pes valgus can be achieved.
Animal studies have suggested an important role for the homeobox-containing gene MSX1 in limb, oralfacial, and cardiac malformations. In this study of 516 Caucasians with isolated birth defects registered in the Maryland Birth Defects Reporting and Information System (BDRIS), we report an association between a dinucleotide repeat polymorphism in MSX1 and isolated limb deficiency. Frequencies of rare alleles at the MSX1 locus are significantly higher among 34 infants with limb deficiency compared to 482 infants with other isolated birth defects (oral clefts, dislocation of hip, clubfoot, hypospadias, polydactyly, or syndactyly) (chi2 = 11.0, df = 3, P = 0.012). Infants carrying the rare alleles had a 4.81-fold higher risk of a limb deficiency when the mother reported smoking during pregnancy, compared to infants who are homozygous for the common allele and whose mother did not smoke. The significance of this apparent gene-environment interaction is attributed to infants with malformation of the lower limb. The statistical association and potential gene-environment interaction observed in this study (which was originally designed to investigate oral clefts) are compatible with results from animal studies involving the MSX1 gene, and suggests that further investigation into biological mechanisms is warranted.
This report deals with the surgeon and anthropologist Friedrich Carl Bessel-Hagen, who was director of the Worms hospital from 1891-1897 and later on was in charge of the Berlin Westend hospital as surgeon. His surgical scientific interest was related to spleen, pancreas and plastic surgery and especially to the treatment of the clubfoot. In the anthropologic field he became well known by the examination of Immanuel Kant's skull (together with Kupffer) which was exhumed in the year 1880. In their report they investigated the question wether the cranial dimensions indicated brain size and development. They concluded that the cranium of the great philosopher encompassed an extraordinarily voluminous brain, and that especially the width of the skull corresponded to the intelligence.
PURPOSE OF THE STUDY: The authors relate a heterogeneous series of twenty one total ankle prosthesis performed by the same surgeon with an average follow up of 37 months. MATERIAL AND METHODS: Four types of prosthesis were implanted: 4 Ramses, 8 New Jersey, 5 Star, 4 Freeman. The etiology was seven times a rheumatoid polyarthritis, ten times post-traumatic, two idiopathic arthrosis, an hemochromatosis and a late clubfoot sequelae. RESULTS: Results were appreciated according to Bousquet's criteria: 4 excellent results, 5 good, 3 fair, 9 bad. The ankle mobility was not improved by arthroplasty. We noticed 7 loosening whose 2 septic occurring between 18 and 38 months after implantation of prosthesis. DISCUSSION: This series indicates that prosthesis should be only suggested for patients over sixty years old. No difference was found between post-traumatic and rhumatoîd. The pre-operative subtalar arthrosis promoted in significant way an unexpected failure occurrence. CONCLUSION: Indications for total ankle arthroplasty must remain selected. Arthrodesis remains in the immediate future, the best solution for young patients with post-traumatic arthrosis.
A review of all prenatal and postnatal diagnoses of trisomy 16 and trisomy 16 mosaicism was carried out in the context of the current understanding of confined placental mosaicism and uniparental disomy (UPD). The prenatal detection of trisomy 16 cells is associated with a high probability of fetal death, preterm delivery, intrauterine growth retardation, and fetal anomalies. Birth defects were typical of those seen in nonmosaic partial duplications of chromosome 16. Surprisingly, anomalies were sometimes limited to a single organ and included some relatively common isolated defects such as a ventricular septal defect, hypospadias, imperforate anus, inguinal hernia, and clubfoot. The risk for abnormality appeared to be higher in those pregnancies in which trisomy 16 cells were identified in amniotic fluid compared to the detection in chorionic villi samples. Contrary to nonmosaic trisomy 16 with an excess of males, mosaic trisomy 16 shows an excess of female karyotypes. Following the prenatal detection of trisomy 16 cells, aneuploid cells are almost never found in fetal or neonatal lymphocytes. Studies on fibroblasts also often fail to confirm the presence of the abnormal cell line even in cases in which multiple anomalies are present. It is likely that trisomy 16 cells are sometimes present in the early developing embryo even though subsequent cytogenetic studies on fetal or neonatal tissues may not detect any aneuploid cells. UPD can be excluded as a mechanism for those anomalies that are common to mosaic trisomy 16 and nonmosaic partial duplications. The term "occult mosaicism" is suggested to describe the situation in which the presence of an abnormal cell line is suspected on the basis of clinical data but unproven by laboratory analysis.
We report the prenatal diagnosis of an apparently balanced de novo complex chromosome rearrangement (CCR) which involved nine breakpoints on four different chromosomes. Fluorescence in situ hybridization (FISH) and spectral karyotyping (SKY) were performed as an adjunct to G-banding for characterization of the abnormal chromosomes. The 22-week female fetus showed minor dysmorphic features including dolichocephaly, broad fingernails, tibial bowing, clubfoot, thoracolumbar scoliosis and hypoplastic toenails. Autopsy revealed gall-bladder hypoplasia and an atrial septal defect. Chromosome analysis of fetal tissue confirmed the presence of the complex rearrangement.
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