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PubMed1996

Limb and other postcranial skeletal defects induced by amniotic sac puncture in the mouse.

A mouse model for studying the teratogenic effects of amniotic sac puncture has recently been established (MacIntyre et al. 1995), and the anomalies encountered included cleft palate, limb and tail abnormalities, and postural deformities. In order to investigate the underlying mechanism(s) involved, mouse embryos subjected to amniotic sac puncture on day 13 of gestation were examined externally on day 19, then 'cleared' and bulk stained with alizarin red S and Alcian blue to reveal, respectively, their bony and cartilaginous elements. This procedure allowed a comparison to be made between the incidence of soft tissue anomalies of the distal parts of the limbs and the appearance of the underlying skeletal elements. Despite a high incidence of soft tissue (principally digital) anomalies, relatively few skeletal anomalies were encountered. Measurements of intact long bones, and regions of ossification, were made in the major long bones of 'nonexperimental' and 'internal' controls and 'experimental' fetuses that displayed external morphological malformations to establish whether the experimental procedure had a greater effect on the proximal or distal components of the limb skeleton. No significant difference was observed when the ratios of proximal: distal length were compared with those obtained from the control series. The degree of severity of 'clubhand' and 'clubfoot' deformity was determined, and a comparison made between the severity observed on the right and left sides. This analysis revealed that for 'clubhand', the left forelimb was more severely affected than the right forelimb. The incidence of 'clubfoot' deformity was similar between the 2 sides. A possible explanation for this asymmetric effect is provided. An unexpected finding was the abnormal pattern of ossification seen in the sternum of two thirds of the 'experimental' fetuses that displayed external morphological malformations. This abnormal pattern was seen in none of the controls nor in fetuses in the 'experimental' series that displayed no external morphological malformations.

Amnion↗
PubMed1964

A RADIOGRAPHIC ANALYSIS OF MAJOR FOOT DEFORMITIES.

Major foot deformities were analyzed using standardized radiographic drawings of the foot in weight-bearing. Specific criteria and a classification of foot deformities by radiographic analysis are presented, utilizing "lining systems" related to the main bones of the hindfoot.The radiographic appearance of the foot is described and analyzed, as are the principal deformities such as varus and valgus heel and forefoot. The prefixes "talipes" and "pes" have been used to signify congenital and acquired deformities, respectively.Specific foot deformities, including talipes equinovarus (clubfoot), pes planovalgus (flatfoot), pes cavus, and metatarsus varus, are analyzed. This method can also be applied in the radiological analysis of any foot deformity.By using this technique, a brief, concise and simplified analysis of foot deformities is available to the student, general practitioner, and specialist.

Calcaneus↗
PubMed1996

Trisomy 10p: report of an unusual mechanism of formation and critical evaluation of the clinical phenotype.

A de novo tandem inverted duplication of 10p was diagnosed in a 17-week fetus. The appearance of GTG banded preparations and the results of fluorescence in situ hybridization (FISH) studies are consistent with duplication of the entire arm, including the telomere. The FISH studies also demonstrated the presence of chromosome 10 alphoid repeats at the junction between the inverted segment and the long arm, consistent with the presence of the entire long arm of the abnormal chromosome. Therefore, this is a case of pure trisomy 10p without an associated deficiency of any other chromosome segment. A comparison of the phenotype associated with pure trisomy 10p and trisomy associated with a duplication/deficiency state documented a higher frequency (of borderline significance) of clubfoot and high-arched/cleft palate in the cases of pure trisomy. The frequency of palatal anomalies was observed to be significantly higher in the cases where the breakpoint of the trisomic segment is in the most proximal band (10p11). However, other clinical manifestations were observed inconsistently, even in the cases with pure, nearly complete trisomy 10p. Therefore, a clearly defined trisomy 10p clinical syndrome could not be documented in this study.

Adult↗
PubMed1997

What makes Hephaestus lame?

Hephaestus (or Hephaistos) is an Olympian Greek god, the divine smith, famed for inventions, who taught men glorious crafts. The fixed epithet for Hephaestus, used from the eighth century B.C. by Homer, Hesiod, and other ancient authors until the fifth century A.D., is "Amphiguéeis," i.e., with both feet crooked. He is also called "Kullopodíou," i.e., clubfooted. His body and his gait were described by Homer: "He spake, and from the anvil rose, a huge, panting bulk, halting the while, but beneath him his slender legs moved nimbly ... and with a sponge wiped his face and his two hands withal, and his mighty neck and shaggy breast, ... and grasped a stout staff, and went forth halting; but there moved swiftly to support their lord handmaidens wrought of gold in the semblance of living maids." His anomaly was congenital, as we learn from Hephaestus himself ("I was born misshapen") and from his mother Hera ("But my son Hephaestus whom I bare was weakly among all the blessed gods and shrivelled of foot."). Vase paintings of the sixth century B.C. depict Hephaestus' lameness, but his lameness is not emphasized in the fifth century and thereafter. It is most likely that bilateral congenital clubfeet made Hephaestus lame. Two sons of Hephaestus, Palaemonius and Periphetes, were also reported as having deformed feet.

Clubfoot↗
PubMed1994

Microcephalic osteodysplastic dysplasia.

We present two patients with a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, microcephaly, and normal intelligence. Similar radiographic abnormalities of the spine, long bones, hands, and feet were noted. These patients are similar to 2 males previously described by Saul and Wilson [1990: Am J Med Genet 35:388-393]. These 4 patients appear to have a unique skeletal dysplasia characterized by microcephaly, distinct facial phenotype, multisystem abnormalities, and short stature of postnatal onset.

Abnormalities, Multiple↗
PubMed2004

Club feet with congenital perisylvian polymicrogyria possibly due to bifocal ischemic damage of the neuraxis in utero.

Club foot is a common congenital deformity, for which a neurogenic process in utero has been proposed in some severe forms, but in most cases its cause remain uncertain. We report on four patients with an unilateral (three cases) or bilateral (one case) clubfoot and a bilateral perisylvian cortical dysplasia. All had severe dysarthria with mild mental retardation, epilepsy occurred in three cases. Direct evidence of fetal lesions of the spinal cord was occasionally present, such as signs of motor axonopathy in two cases analyzed by electrophysiological methods and syringomyelic cavitation at the thoracic level in one case. Even though the sensitivity of the investigations to demonstrate microcopic scars in the spinal cord remains weak, the presence of polymicrogyric rearrangements in the perisylvian cortex, known to proceed from a transient ischemic process occurring in the carotid territory during mid-gestation, strongly suggests that a similar mechanism occurred in the spinal cord. In fact, the foot deformity cannot be viewed as the consequence of lesions to brain regions that do not control the foot motility in the fetus. Extraneurological lesions such as jejunal atresia, possibly proceeding from localized vascular compromise, were also encountered. In one sibship, one sister was found to have a severe developmental anomaly of one foot, suggesting that genetic factors may be involved.

Adult↗
PubMed2005

Idiopathic talipes equinovarus (ITEV) (clubfeet) in Texas.

Idiopathic talipes equinovarus (ITEV) is the most common form of clubfoot with a birth prevalence of 1 per 1,000 births. Serial casting and surgical correction impose a substantial financial burden on families and the health care system. While the etiology of ITEV is considered to be complex, the causes remain elusive. Genetic, maternal, and environmental factors have been suggested to play an etiologic role. This study was undertaken to determine the prevalence of ITEV and define maternal and environmental factors associated with ITEV in Texas from 1996 to 1999. Data on 682 cases of nonsyndromic ITEV were compared with all births (n = 923,543) in Texas during the same period. The overall prevalence and prevalence odds ratios (PORs) were calculated for gender, year of birth, public health region (PHR), race, maternal age, education, folic acid fortification, and parity. The overall prevalence of ITEV was 0.74/1,000 or 1/1,354 live births. Adjusted PORs were similar among blacks and US and foreign-born Hispanics (POR = 0.92, 95% CI = 0.69-1.21; POR = 0.99, 95% CI = 0.79-1.25; and POR = 0.94, 95% CI = 0.74-1.19), respectively, compared to whites. College education and higher parity were significantly associated with a lower risk of giving birth to offspring with ITEV. Babies born after folic acid fortification of grains had a very small decrease in ITEV that may be due to chance.

Adolescent↗
PubMed1978

Partial trisomy 10p in two generations.

Two cases of partial 10p trisomy due to a t(10;20)(p12;p12) in two generations of a family are presented. Analysis of 20 known cases of such aberrations confirmed the opinion of Schleiermacher et al. (1974) that partial trisomy 10p is a distinct clinically recognizable entity. The most important diagnostic features of this syndrome are dolichocephaly, prominent forehead, wide open sutures and fontanelles, broad root of the nose, cleft lip and palate, clubfoot, and cystic changes in kidneys.

Adult↗
PubMed1980

[The posttraumatic "psychogenic club-foot" (author's transl)].

Two cases of posttraumatic "psychogenic clubfoot" deformity are reported. Case I. A woman, aged 44, with foot deformity after infantile paralysis on the right side sustained an inversion injury to the left ankle in April 1979. Two weeks later she was admitted to our hospital. She was unable to walk and examination showed a drop foot with supination contracture of the left foot. Neurological examination was normal inclusive electromyogram. Ligaments of the ankle and peroneal tendons were reviewed by operative procedure under suspicion of rupture. There were no pathological findings, no hematomas or other traumatic signs. The neurological control examination was normal and psychogenic contracture was diagnosed. The personal history showed a corresponding problematical psychic background. Case II. A man, aged 24, was admitted to our hospital 3 months after an inversion injury to the right ankle. Examination showed a drop foot with supination contracture (Fig. 1 a, b). He walked with two crutches. Roentgenograms were normal, the ankle had normal stability, and neurological examination showed no pathological findings. There were no signs of an organic lesion. Psychogenic club-foot was diagnosed. Both patients were treated functionally with active exercises and psychological care. The follow-up control 1 resp. 1/2 year after injury showed normal muscles and free active mobility in both cases (Fig. 1 c, d).

Adult↗
PubMed1983

Lipid storage myopathy associated with scoliosis and multiple joint contractures.

Two patients with cleft palate, clubfoot, congenital scoliosis, and arthrogryposis multiplex congenita showed increased numbers of lipid droplets in biopsied muscle fibers. There was little abnormality in the mitochondrial morphology of the muscle and the results of blood chemistry including carnitine concentrations. Accumulation of large lipid droplets, increased amount of glycogen and a decreased number of mitochondria were observed in chondrocytes from the biopsied iliac crest cartilage of these patients. It was suggested that the present cases might belong to a previously unknown clinico-pathological entity of myopathies.

Arthrogryposis↗
PubMed2002

[Ultrasound diagnosis of congenital foot deformities].

Assessment of tarsometatarsal skeletal malalignment in congenital foot deformities such as clubfoot and vertical talus is possible with ultrasound. Sonography can be useful in deciding on the therapeutic concept and evaluating therapeutic effects.

Calcaneus↗
PubMed2003

A radiographic comparative study of two series of skeletally mature clubfeet treated by two different protocols.

OBJECTIVE: To compare the radiographic features of two series of congenital clubfeet to determine whether a different treatment protocol may influence the radiographic results at the end of skeletal growth. DESIGN AND PATIENTS: Two series of patients with congenital clubfeet, treated by two different manipulative techniques and by two different complementary soft tissue release operations, were radiographically studied at skeletal maturity. Twenty-one normal feet of the unilateral cases in both series served as controls. Anteroposterior and lateral radiographs of the feet were taken with the patient standing, and several radiographic parameters were studied. RESULTS AND CONCLUSIONS: The size of the talus and calcaneus and the height of the talar trochlea were smaller than normal in all cases of clubfeet, were similar in both series and were not influenced by treatment, whereas all the other radiographic parameters studied were more or less different between the two series and seemed to be influenced by treatment. In no treated clubfoot of either series was a normal radiographic foot anatomy restored, not even in those feet that had an excellent clinical result.

Adult↗
PubMed2000

Reflex sympathetic dystrophy in children.

This report presents the case of an 8-year-old boy who underwent a second clubfoot operation following early-stage reflex sympathetic dystrophy (RSD). After other conditions had been ruled out, the patient was submitted to physiotherapy supported by antiphlogistic and analgesic drugs as well as a partial immobilisation of the affected extremity. He remained asymptomatic during the following 4 weeks. RSD in children is not a well-recognised entity. This case of early-stage RSD illustrates the need to be aware of this possible complications after operation in the differential diagnosis of local pain and swelling of a limb.

Child↗
PubMed2001

Histological abnormalities of the calcaneum in congenital talipes equinovarus.

Six calcaneal fragments from patients aged 2, 3, 4, and 5 years with relapsed talipes, and two normal feet from a 40-week-old stillborn fetus were studied. All tissue was sectioned in the sagittal or coronal plane and stained using alcian blue and sirius red to distinguish cartilage and bone. Immunocytochemistry was performed to illustrate collagen types I and II. Within the clubfoot calcaneum, there were fewer chondrocytes and a diminished number of cartilage canals. Although a growth plate was present, the zones of differentiated chondrocytes were not apparent and the chondrocytes were smaller and flatter. The alcian blue staining within the spherical physis was paler than normal, suggesting that the amount of extracellular proteoglycans was reduced. Overall, the growth plate region of the talipes calcaneum resembled that of a permanent cartilage, like articular cartilage. Abnormalities were also seen in the ossification center. Cartilage spicules were rare, and developing bone frequently abutted directly onto the growth plate cartilage. The relative absence of a primary spongiosa suggested that the physis was virtually inactive and endochondral bone formation was retarded. These findings are consistent with the hypothesis that an intrinsic primary growth disorder causes the formation of a small hypoplastic bone and, subsequently, a smaller foot.

Calcaneus↗
PubMed2003

Fertility in a female with mosaic trisomy 8.

OBJECTIVE: To describe the first term pregnancy in a patient with the characteristic features of trisomy 8 mosaicism. DESIGN: Case report. SETTING: University department. PATIENT(S): The 23-year-old proband had a history of cleft palate, mixed bilateral hearing loss, short stature, and developmental delay. She had dysmorphic craniofacial features, mild musculoskeletal abnormalities, and abnormal skin pigmentation. Her karyotype was mos47,XX,+8[17]/46,XX[83]. INTERVENTION(S): Cytogenetic analysis and genetics evaluation of the proband and her child. MAIN OUTCOME MEASURE(S): The first successful pregnancy in a phenotypically abnormal trisomy 8 patient. RESULT(S): The pregnancy was largely uncomplicated except for an abnormal triple screen, with subsequent normal amniocentesis, and a fetal ultrasound revealing a clubfoot anomaly. Cytogenetic analysis of the child showed a 46,XX karyotype. CONCLUSION(S): Our review indicates that reproduction in females with mosaic trisomy 8 is possible, albeit uncommon. Until additional cases are reported and any specific risks identified, prenatal diagnosis of any pregnancies in mosaic trisomy 8 patients would seem prudent. In addition, this and previous cases illustrate the need to effectively counsel families of mosaic trisomy 8 children about the possibility of reproduction.

Adult↗
PubMed1991

Malignant potential of the cryptorchid testis.

A follow-up study of 224 male patients from Rochester, Minnesota, diagnosed with cryptorchidism during the period from 1935 through 1974 was conducted to assess the frequency of subsequent testicular neoplasms. Age-specific rates for testicular neoplasm in this community were used to estimate an expected number for comparison with that observed. Two malignant testicular neoplasms have occurred in this cohort; thus, the standardized morbidity ratio was 11.4 (95% confidence interval, 1.4 to 41.1). Of the 158 patients born in the community, 11% were known to have birth weights of less than 2,500 g, approximately twice the expected occurrence. Increased risks were also noted for inguinal hernia, hypospadias, Down's syndrome, cleft lip or palate (or both), clubfoot, and congenital heart disease, for which the standardized morbidity ratios were 3.6, 4.7, 17.8, 11.3, 11.7, and 2.7, respectively. The increased risk for malignant neoplasms observed in this cohort of patients with cryptorchidism is consistent with that found in earlier studies.

Abnormalities, Multiple↗
PubMed1999

Congenital abnormalities and indicators of germinal mutations in the vicinity of an acrylonitrile producing factory.

The results of an environmental mutation and teratologic epidemiological study are presented which was performed in inhabitants living in the surrounding region of an acrylonitrile factory in Nyergesújfalu. The endpoint of the study was congenital abnormalities in 46,326 infants born to mothers living in the 30 settlements of the study region within a 25 km radius of the acrylonitrile factory between 1980 and 1996. The ascertainment of cases with congenital abnormalities was based on the dataset of the Hungarian Congenital Abnormality Registry complemented with the review of pediatric, pathology and cytogenetic records. A particular attention was paid to the indicators of germinal mutations as sentinel anomalies, Down syndrome and unidentified multiple congenital abnormalities and the indicators of teratogens as the specific pattern of multiple congenital abnormalities. Three congenital abnormalities: pectus excavatum in Tata, 1990-1992 (OR with 95%CI: 78.5, 8.4-729.6), undescended testis in Nyergesújfalu between 1980 and 1983 (8.6, 1.4-54.3) and in Esztergom, 1981-1982 (4. 2, 1.3-13.5) and clubfoot in Tata, 1980-1981 (5.5, 1.5-20.3) showed significant time-space clusters in the study region. There was a decrease in risk of undescended testis with increasing distance from the acrylonitrile factory. An unusual increase was found in the combination of oral cleft and cardiac septal defects in multimalformed babies in Tatabánya, 1990. The detailed analysis of congenital abnormalities in all settlements of a given territory may help to detect clusters of congenital abnormalities and their possible relation to the environmental hazards.

Acrylonitrile↗
PubMed2004

Use of remifentanil in an infant with surgically repaired Shone's syndrome.

We describe the use of remifentanil in an infant with a partially repaired Shone's syndrome who required tendon lengthening because of congenital clubfoot. Remifentanil has unique properties, making it a potentially useful and predictable agent for infants with significant comorbidity.

Analgesics, Opioid↗