Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “CLUBFOOT”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 937 records · Page 52Linked to original sources
PubMed2002

Update on new developments in the study of human teratogens.

BACKGROUND AND METHODS: The purpose of this annual article is to highlight and briefly review new and significant information on agents that may be teratogenic in pregnant women. Various sources of on-line and printed information are given. RESULTS: The following topics have been discussed: 1) lithium medication: decreased estimate of risk; 2) cigarette smoking and genotype as contributors to oral-facial clefts and clubfoot; 3) trimethoprim; 4) methimazole syndrome?; 5) glucocorticoids and oral-facial clefts; 6) binge drinking; 7) fetal valproate syndrome; and 8) carbamazepine. CONCLUSIONS: We have highlighted several maternal exposures during pregnancy that are associated with small but increased rates of birth defects, generally only a few cases per 1,000 infants. These exposures include cigarette smoking, and treatment with lithium, trimethoprim, methimazole, or corticosteroids. This weak teratogenic effect was usually identified by the linkage of an uncommon treatment with an unusual birth defect outcome. The use of modern epidemiologic techniques, especially prospective multicenter studies that provide increased numbers, has helped to strengthen the evidence for these associations. We discuss how teratogenic risks that are small in comparison to the background risk can be presented to at-risk women and their doctors. We have briefly listed some elements that might be used in prioritizing further studies of suspected teratogenic exposures. Various existing methods for expressing the strength of evidence for human teratogenicity are also given.

Abnormalities, Drug-Induced↗
PubMed1984

Retardation of brain growth of guinea pigs by hyperthermia: effect of varying intervals between successive exposures.

Guinea pigs were exposed to a temperature of 42.5-43.5 degrees C on three occasions between days 20 and 23 of pregnancy. In the first experiment, groups of mothers were exposed at intervals of 18-30 hr. Each exposure ended when the deep rectal temperature had been over 43 degrees C for 6 min and mean temperatures were 43.2-43.4 degrees C. Micrencephaly was found in 78% of heated newborn offspring, the mean brain weights of all groups being significantly less than controls. In the heated groups, the brain weights were reduced significantly as the interval between exposures decreased. Abnormalities other than micrencephaly were found in 10% of heated offspring and included exomphalos, clubfoot, and hypodactyly. In the second experiment, groups of mothers were exposed for 1 hour at intervals of 6-20 hr. The mean temperatures of heated groups were 42.6-42.9 degrees C. The mean brain weights of all groups of heated newborn were significantly reduced and micrencephaly was found in 61% of newborn. Brain weights were reduced significantly as mean maternal temperature increased. There was a significant interaction between the level of temperature elevation and the interval between exposures.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1986

Congenital malformations and maternal smoking during pregnancy.

The relationship between smoking during pregnancy and congenital malformations was studied in prospective studies of 33,434 live births in the Kaiser-Permanente Birth Defects Study and 53,512 live births in the Collaborative Perinatal Project (CPP). In the Kaiser study, statistically significant positive associations (P less than .05) were observed for ventral hernias, omphaloceles, and "other major gut abnormalities," but, for each comparison the estimates were based on one or two unexposed cases. Statistically significant negative associations were found for ventricular septal defects (odds ratio, 0.5 [95% confidence interval, 0.2-0.96]), hydroceles (0.7 [0.6-0.9]), clubfoot (0.7 [0.6-0.9]), pigmented nevi (0.7 [0.6-0.9]), hemangiomas (0.8[0.7-0.98]) and Down syndrome (0.2 [0.1-0.9]). To determine if the findings noted above were an artifact of multiple comparisons, seven of these nine malformations were analyzed by smoking status for women in the CPP. All but one of the associations were not confirmed in the CPP. Previously described associations between smoking and specific congenital malformations were also tested using data from the CPP. We conclude that smoking is unlikely to be responsible for a large increase in malformations at birth.

Congenital Abnormalities↗
PubMed1989

Limb reduction defects in over one million consecutive livebirths.

Limb reduction defects occurring among 1,213,913 consecutive livebirths in British Columbia during the period 1952-1984 inclusive were reviewed. A total of 659 cases of limb reduction defects were identified, 393 of them involving the long bones and 190 of them more than one limb. The time period 1966-1984, during which ascertainment was consistent, was evaluated, and an incidence of 5.97 per 10,000 livebirths (1 in 1,692 live births) was found. The data were evaluated for trends over time, sex ratio, and regional and ethnic distribution. Associated anomalies of other organ systems in these cases were analyzed, and overall about one-half of the cases have additional defects. The majority of these additional defects affect the musculoskeletal system and include such entities as clubfoot, hip dislocation, and congenital contractures. Defects are also frequent in other organ systems, such as the cardiovascular, gastrointestinal, and genitourinary systems. By far the most common limb defects are terminal longitudinal defects then terminal transverse defects. Of all cases of limb defects, 75% are upper limb and 25% lower limb. We found no evidence that one side is affected more frequently. About 6.5% of cases had another family member registered with a skeletal defect; 12.9% of cases died within the first year of life, the majority (85%) of those dying having additional defects. Etiological considerations are discussed for some subgroups.(ABSTRACT TRUNCATED AT 250 WORDS)

Abnormalities, Multiple↗
PubMed1993

Formation of primary and secondary myotubes in aneural muscles in the mouse mutant peroneal muscular atrophy.

The role of motor innervation in supporting and regulating muscle development was studied using aneural muscles in the hindlimb of the mouse mutant peroneal muscular atrophy (pma). This is a single-locus autosomal mutation where homozygous animals lack the common peroneal nerve, so that muscles in the anterolateral compartment of the lower leg develop entirely without innervation. In adults, these muscles are extremely atrophied, and the mice display a clubfoot deformity. The mutant animals provide a preparation in which aspects of muscle formation can be studied in muscles that have never been exposed to direct contact with somatic motor or sensory axons, without pharmacological or surgical intervention. Using quantitative electron microscopy, we found that normal numbers of primary myotubes formed in aneural pma EDL muscles, but a greater than normal proportion degenerated during the first 2 days after their formation. Secondary myotubes appeared at their normal time and position within the muscle, initially in normal numbers, so that the ratio of secondary to primary myotubes initially was greater in pma than in CF1 control strain mice. No abnormalities in ultrastructure were seen until the time of birth, when retardation in development was obvious, together with invading macrophages and degenerating myofibres. The results show that secondary myotube formation in the mouse, as in the chick (B. J. Fredette and L. T. Landmesser, Dev. Biol. 143, 19-35, 1991) is not directly dependent on innervation. In control muscles, secondary myotubes first form in the vicinity of endplates on primary myotubes. No aggregations of ACh receptors or acetylcholinesterase were present in the aneural muscles, showing that these are neurally induced in the mouse, but secondary myotubes formed in their normal position indicating that positional information related to endplate formation is present in aneural muscles.

Acetylcholinesterase↗
PubMed1978

The Roberts' syndrome.

A report is given on a small-for-date male infant showing the following symptoms: bilateral aplasia of humerus, radius, and ulna, shortened femora, bilateral cleft lip and cleft palate, stigmata of dysmorphism, and notably; simple helix formation of the ear, simian crease, clinodactylia, bilateral clubfoot deformity, hypospadia, thrombocytopenia, micrognathia, and contractures in the knee joints. Postmortem autopsy revealed horsehoe kidney, ureterstenosis with hydronephrosis, persistent branchial arches, and absence of the knee joints. Chromosome analysis results performed by G-band technique turned out normal. This, obviously, was a case of the so-called Roberts' syndrome. Our results were compared with the relevant literature and some particularities were emphasized. The question was discussed as to whether the SC-phocomelia (pseudothalidomid syndrome), the TAR syndrome, and reported single cases might be an identical syndrome.

Abnormalities, Multiple↗
PubMed1975

A male infant with monosomy 21.

A male infant with total monosomy 21 identified by Q-, G- and R-banding is described. His main symptoms are hypertonia, micrognathia, microphthalmus, imperforate anus, ambiguous external genitalia, floating and malopposed thumbs, overlying fingers, right clubfoot and growth retardation. Both parents are phenotypically as well as karotypically normal.

Abnormalities, Multiple↗
PubMed1975

Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).

A 16-year-old girl with trisomy 9p is described. She had a short stature, severe mental retardation and the following abnormal clinical findings: peculiar face with hypertelorism, downward slanting palpebral fissures, convergent strabismus, a bulbous nose with broad and prominent bridge, short upper lip, narrow, high-arched palate; short neck with low hairline; severe kyphoscoliosis and a congenital clubfoot deformity; hypoplasia and dysplasia of several phalanges of the fingers and toes and some nails, a delay by about 6 years in bone age, and remarkable dermatoglyphic patterns. The father and 3 other family members carried a balanced translocation between chromosomes 9 and 13, t(9;13)(q13;q12).

Abnormalities, Multiple↗
PubMed1975

Partial monosomy 13 as the result of a balanced translocation 3/13 pat.

In a 4 1/3-year old girl we found the karyotype 45, XX, del13(pter yields q12). The father showed a balanced translocation 3/13 (karyotype: 46,XY,t(3;13) (p27;q12). Psychological investigation of the patient revealed almost normal intelligence (DQ91). Clinical symptoms were: low birth weight, growth retardation, dolichocephalus, microgenia, antimongoloid slant of the eyes, edema on hands and feet, strabismus convergens, clubfoot (left), slight decrease in IgA and IgM.

Aneuploidy↗
PubMedDate not supplied

Congenital varicella syndrome.

The authors are reporting a typical case of congenital varicella syndrome following maternal varicella during the 17th week of pregnancy. At birth, the newborn showed necrotic bullae on the skin that healed later with characteristic scars. Other typical anomalies, i.e. hypoplastic limbs with muscular atrophy and clubfoot, intrauterine atrophy, dysphagia and anisocoria were also found. In view of the risk of serious malformations following intrauterine varicella infection attempts should be made to prevent varicella zoster virus infection during pregnancy.

Adult↗
PubMed2005

Arthrodesis of the first tarsometatarsal joint for correction of the advanced splayfoot accompanied by a hallux valgus.

OBJECTIVE: Arthrodesis of the first tarsometatarsal joint for the treatment of a painful splayfoot with the aim to restore a normal weight bearing on the first ray. Correction of hallux valgus deformity. INDICATIONS: Advanced splayfoot deformity with a first intermetatarsal angle > 18 degrees. Hypermobility of the first tarsometatarsal joint with reduced weight bearing on the first ray and development of a transfer metatarsalgia. Painful, primary or secondary osteoarthritis of the first tarsometatarsal joint. Recurrence of splayfoot deformity after previous attempt at surgical correction. Elevation of the first ray such as after developmental clubfoot. Metatarsus primus varus deformity accompanied by hallux valgus in the presence of a hypermobile flatfoot. CONTRAINDICATIONS: Minimal or moderate splayfoot deformity with a first intermetatarsal angle < 17 degrees and a clinically stable first tarsometatarsal joint. Untreated hindfoot deformities such as flatfoot combined with heel valgus. Inability to use walking aids for postoperative partial weight bearing. Insufficient circulation of forefoot. SURGICAL TECHNIQUE: Dorsomedial incision overlying the first tarsometatarsal joint. Splitting of the extensor aponeurosis medial to the tendon of the extensor hallucis longus. Subperiosteal exposure of the first tarsometatarsal joint. Opening of the joint. Judicious removal of articular cartilage and resection of a laterally based bony wedge from the medial cuneiform for correction of the increased first intermetatarsal angle. Manual correction of the splayfoot with concomitant plantar displacement of the base of the first metatarsal. Selection of properly fitting fixed-angle plate and internal fixation. Soft-tissue correction at the first metatarsophalangeal joint or metatarsal neck osteotomy to realign the articular surface of the first metatarsal head. RESULTS: Clinical and radiologic results based on 56 patients (64 feet) followed up for an average of 8.2 months. COMPLICATIONS: one reflex sympathetic dystrophy, four nonunions of the first tarsometatarsal joint (6.2%). Radiologic evidence of consolidation at a mean of 9 weeks. Improvement of the first intermetatarsal angle from 20.4 degrees to 11.2 degrees. Pressure measurement showed a significantly improved load-carrying capacity of the first ray. The score of the American Orthopaedic Foot and Ankle Society improved significantly (p < 0.01) from 51 to 92 points.

Arthrodesis↗
PubMed2006

Bilateral discoid medial menisci accompanied by distal arthrogryposis: a case report.

Discoid meniscus shows a propensity for the lateral side, and bilateral discoid medial meniscus is extremely rare. The present patient had a history of windblown hand and clubfoot, and bilateral discoid medial meniscus was associated with distal arthrogryposis. There has been no previous case report about the coexistence of meniscal abnormalities and distal arthrogryposis. While the association between distal arthrogryposis and meniscal abnormalities is unknown, it is interesting that discoid medial meniscus (a rare meniscus abnormality) occurred in the presence of arthrogryposis. We performed bilateral arthroscopic partial meniscectomy (reshaping) to treat discoid meniscus in this case, and the patient used outer wedge arch supports postoperatively. Neither relapse of meniscal symptoms nor arthrosis has occurred postoperatively in this patient, but long-term follow-up is considered to be necessary.

Abnormalities, Multiple↗
PubMed1998

Rapidly progredient scoliosis associated with multicore disease.

Multicore disease is a rare congenital myopathy that normally stops or makes slow progress. It starts with delayed motor development and frequent falls. Especially the proximal muscles are involved. Other symptoms include contractures of joints, clubfoot, high arched palate, chest deformities, involvement of eye-muscle, cardiac abnormalities, hyperlordosis and scoliosis that normally does not require surgery. We report a rare case of advanced scoliosis in multicore disease requiring operative treatment in a 15-year-old girl. In this case the scoliosis took a rapidly progredient course in puberty close to the end of skeletal growth. A dorsal spondylodesis with USS instrumentation from T9 to L3 was performed. A significant reduction of the scoliosis was obtained. Scoliosis in multicore disease may take a rapidly progredient course. Frequent checks will lead to the initiation of surgical treatment in time.

Actins↗
PubMed1999

Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy.

We present the clinical and neuroimaging findings of five patients (four males, one female; mean age 12 years) affected by congenital myotonic dystrophy and the correlation with their molecular genetic analysis. At birth all five presented severe muscular weakness and hypotonia, associated with feeding difficulties and respiratory distress. In the same patients, congenital clubfoot or more generalized arthrogryposis was also evident. Lymphocyte DNA was characterized in each by a CTG repeat longer than 1300 in the region of the myotonic dystrophy gene in chromosome 19. The patients' neurological condition was evaluated by clinical examination, intelligence tests, electroencephalography, and brain magnetic resonance imaging. All five suffered from some impairment of intellectual function (IQ ranged from 52 to 79). In three a longitudinal evaluation of the cognitive deficit detected no deterioration. In all patients magnetic resonance imaging showed some degree of ventricular dilatation, loosely correlated to the cognitive impairment; in three there was hypoplasia of the corpus callosum and in two mild abnormalities of supratentorial white matter. The relationship between the size of the CTG repeat expansion found in lymphocyte DNA and the cerebral abnormalities appeared inconsistent in this unusual myoencephalopathy of the newborn.

Adolescent↗
PubMed2000

Thrombocytopenia and absent radii (TAR) syndrome associated with horseshoe kidney.

The TAR syndrome is an inherited disorder characterized by limb abnormalities, especially absent radii, and hypomegakaryocytic thrombocytopenia. Previous reports have included two infants with genitourinary abnormalities. We report a newborn with bilaterally absent radii and foreshortened ulnae, hypoplastic humeri, a left clubfoot, a ventricular septum defect, and persistent thrombocytopenia. This constellation of abnormalities is consistent with the TAR syndrome. In addition, he had a horseshoe kidney with parenchyma of normal appearance. This is the first report of horseshoe kidney in association with the TAR syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

Developmental response of zygotes exposed to similar mutagens.

Exposure of mouse zygotes to ethylene oxide (EtO) or ethyl methanesulfonate (EMS) led to high incidences of fetal death and of certain classes of fetal malformations (Generoso et al., 1987, 1988; Rutledge and Generoso, 1989). These effects were not associated with induced chromosomal aberrations (Katoh et al., 1989) nor are they likely to be caused by gene mutations (Generoso et al., 1990). Nevertheless, the anomalies observed in these studies resemble the large class of stillbirths and sporadic defects in humans that are of unknown etiology, such as cleft palate, omphalocoel, clubfoot, hydrops and stillbirths (Czeizel, 1985; Oakley, 1986). Therefore, we continue to study the possible mechanisms relating to induction of these types of zygote-derived anomalies in mice. Effects of zygote exposure to the compounds methyl methanesulfonate (MMS), dimethyl sulfate (DMS), and diethyl sulfate (DES), which have similar DNA-binding properties as EtO and EMS, were studied. DMS and DES, but not MMS, induced effects that are similar to those induced by EtO and EMS. Thus, no site-specific alkylation product was identifiable as the critical target for these zygote-derived anomalies. We speculate that the developmental anomalies arose as a result of altered programming of gene expression during embryogenesis.

Animals↗
PubMed1992

The developmental toxicity of 2-ethylhexanoic acid in Wistar rats.

The developmental toxicity of 2-ethylhexanoic acid (2-EHA), a wood preservative and a mammalian metabolite of di-(2-ethylhexyl) phthalate was examined in Wistar rats (20-21 pregnant females/dose). Mated animals were exposed to 2-EHA in their drinking water at doses of 100, 300, or 600 mg/kg/day on Days 6-19 of gestation. Control animals received vehicle water. The fetuses were examined (on Gestational Day 20) for external, visceral, and skeletal malformations and variations. 2-EHA was marginally toxic to the dams at 600 mg/kg, but not at lower doses, since the mean near term body weight was reduced by 11%. This dose level was also slightly fetotoxic as indicated by a 5 to 8% decrease in the mean fetal body weight both in males and females. No treatment-related effects were observed in the number of implantations or live fetuses. At doses of 100 mg/kg and above, 2-EHA caused skeletal malformations (clubfoot, absence of fibula, polydactyly), while the development of visceral tissues was less affected. The number of affected fetuses increased in a dose-dependent way (4.9, 8.9, and 15.3% of treated offspring at 100, 300, and 600 mg/kg/day, respectively, vs 2.4% control). These results indicate that 2-EHA is teratogenic in rats already at doses which are not yet maternally toxic. The skeleton appears to be the main target of 2-EHA in developing rats.

Abnormalities, Drug-Induced↗
PubMed2006

External fixation for the foot and ankle in children.

During the last decade, external fixation for the pediatric foot and ankle has evolved as a result of advances in technology (eg, Taylor spatial frame, hydroxyapatite-coated external fixator pins) and preoperative deformity planning. Although complications are common, most are minor and can be addressed nonoperatively while treatment continues. This article reviews the indications and applications of external fixation for soft tissue contractures, idiopathic and teratologic clubfoot, osteotomies, metatarsal lengthening, tibial lengthening, and foot and ankle trauma.

Bone Lengthening↗