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PubMed1992

Imaging of the skeleton and soft tissues in children.

Sonographic applications to osteomyelitis, myositis ossificans, tropic pyomyositis, child abuse, synovitis, and slipped capital femoral epiphyses; MR imaging (including gadolinium-enhanced MR scans) in osteomyelitis, the normal and abnormal physis, physeal bars, normal marrow, Gaucher disease, cancer, dysplasia epiphysealis hemimelica, myositis, tenosynovitis, arthritis, and clubfoot; nuclear imaging in osteomyelitis, tibia valga, limp, and unexplained lower extremity pain; and CT in osteomyelitis, are reviewed. Routine long-bone radiography for patients with congenital syphilis is not recommended. Tibia valga after fracture has not been fully explained; tibia valga also follows treatment of renal failure. Nonsupracondylar humerus fractures in infants and femoral shaft fractures in the first year of life may suggest child abuse.

Bone Marrow↗
PubMed2004

The newborn foot.

An examination of the feet is an essential component of an evaluation of a newborn. A thorough examination can be performed quickly. Despite its small size, the newborn foot is a complex structure. Most deformities can be diagnosed easily with physical examination alone, using few diagnostic studies. A thorough examination includes assessment of vascular, dermatologic, and neurologic status of the lower extremities, and observation, palpation, and evaluation of joint range of motion in both feet. Common newborn foot abnormalities include metatarsus adductus, clubfoot deformity, calcaneovalgus (flexible flatfoot), congenital vertical talus (rigid flatfoot), and multiple digital deformities-polydactyly, syndactyly, overlapping toes, and amniotic bands. Most treatments include conservative measures, such as observation, stretching, and splinting, which can be performed easily in the family medicine setting. Cases that require surgical correction should be referred to a subspecialist with expertise in correcting lower extremity deformities in children. When surgery is indicated, procedures generally are postponed for six to nine months so that the child will better tolerate anesthesia.

Foot↗
PubMed2003

Prune belly syndrome and associated malformations. A 13-year experience from a developing country.

A retrospective investigation was conducted to describe clinical features and birth outcomes among babies with prune belly syndrome detected ante-natally and at birth at the University Teaching Hospital in Cameroon. A total of 11 cases were identified over a period of 13 years, and the majority of affected fetuses were male (10 of 11). Most of the mothers were less than 30 years of age, had singleton pregnancies, and about two-thirds were complicated by placenta praevia, genital infections, preeclampsia, and anaemia associated with hookworm infestations. The most prominent findings related to prune belly syndrome among our patients were clubfoot (45%), pulmonary hypoplasia (27%), Potter facies (27%), imperforate anus (27%), and arthrogryposis (18%). About two-thirds of the affected pregnancies did not reach the age of viability either due to voluntary termination (three of seven cases) or spontaneous abortion (four of seven cases). Of the remaining four viable pregnancies, two cases each of stillbirth and neonatal death were recorded. Among pregnancies that were not voluntarily terminated (n = 8), multiple concomitant anomalies and bilateral renal lesions were apparently the cause of fetal/infant death in the majority of cases (75%). In conclusion, Cameroonian babies with prune belly syndrome presented with clinical features that were comparable to those observed in developed nations.

Abnormalities, Multiple↗
PubMed2004

Patau syndrome with a long survival. A case report.

Trisomy 13 is a clinically severe entity; 85% of the patients do not survive beyond one year, and most children die before completing six months of age. We report a female child, 28 months old, white, the fourth child of a non-consanguineous couple, who presented trisomy 13. The child was born at term, from a vaginal delivery, weighing 2600 g. At birth, she was cyanotic, icteric, spastic, and cried weakly. The initial clinical examination detected polydactyly in the left hand, congenital clubfoot and convex soles, ocular hypertelorism, a low nasal bridge, numerous hemangiomas distributed throughout the body, cardiomegaly, and perimembranous inter-ventricular communication. There was no cleft lip or palate. On physical examination at 18 months old, the child weighed 6,900 g, had a cephalic perimeter of 41 cm, a thoracic perimeter of 43 cm and was 76 cm tall. At 28 months, she weighed 10,760 g and was 88.5 cm tall. Neuropsychomotor development retardation was evident from birth and, according to the psychologist and the social assistant of APAE (Handicapped Parents and Friends Association) in Canguçu, Rio Grande do Sul, there was a noticeable improvement after physiotherapy and recreational sessions.

Abnormalities, Multiple↗
PubMed2004

Assessment of percutaneous V osteotomy of the calcaneus with Ilizarov application for correction of complex foot deformities.

Complex foot deformity can be described as a foot with multiplanar abnormalities with or without shortening of the foot. Conventional surgical treatment may not be able to correct these deformities. In this study we evaluate the results of percutaneous V osteotomy of the calcaneus with an Ilizarov external fixator for treatment of complex foot deformity. Twenty feet with a complex deformity were treated by the Ilizarov method in 15 patients. The aetiologic factors were neglected or relapsed clubfoot (13 patients) and poliomyelitis (2 patients). All patients underwent percutaneous V osteotomy of the calcaneus and gradual correction of the deformity using Ilizarov's method. The mean duration of fixator application was 9.5 months (range, 6-13 months). The mean follow-up period was 1.8 years (range, 1 to 3 years). At the time of fixator removal, a plantigrade foot was achieved in 18 cases; gait was improved in all patients. There was residual varus deformity in two patients. A pin-tract infection was observed in all patients. No recurrence of the deformity occurred. The V osteotomy offers the most options for correction of complex foot deformities. Percutaneous technique is particularly useful for the complex foot deformity that has poor skin coverage, with poor blood supply. Gradual correction with the Ilizarov method yields good results for complex foot deformities.

Adolescent↗
PubMed2005

Predominantly upper limb weakness, enlarged cisterna magna, and borderline intelligence in a child with de novo mutation of the skeletal muscle alpha-actin gene.

We present a 10-year-old boy from nonconsanguineous parents of Libyan (Sephardi) Jewish origin. Mild dysmorphism, hypotonia, and clubfoot deformities were noted at birth. On follow-up, he had borderline intelligence and nonprogressive muscle weakness, predominantly in the upper extremities. Physical examination revealed mild facial weakness, a bell-shaped chest cavity, kyphosis, winging of the scapula, and hypotonia of the shoulder girdle. Muscle biopsy demonstrated prominent variation in fiber size and central nuclei and numerous subsarcolemmal particles on modified Gomori trichrome stains. Electron microscopy depicted areas of disrupted sarcomeres with abnormal aggregates. Brain magnetic resonance imaging showed mild widening of the lateral ventricles and an enlarged cisterna magna. Molecular DNA analysis by polymerase chain reaction (PCR) and direct sequencing revealed a de novo heterozygous missense mutation in the skeletal muscle alpha-actin gene (ACTA1) changing codon 348 from TCG serine to TTG leucine.

Actins↗
PubMed2005

Asymptomatic uterine rupture of a cornual pregnancy in the third trimester: a case report.

BACKGROUND: Reports of cornual pregnancy persisting until fetal viability and of ultrasound diagnosis of asymptomatic uterine rupture are rare. CASE: A 24-year-old woman, gravida 6, para 5, presented for initial ultrasound evaluation at 28 5/7 weeks' gestation after registering late for prenatal care. Her history included 2 prior cesarean deliveries. Obstetric ultrasound evaluation revealed a clinically silent uterine rupture with a live fetus. The site of rupture was suspected to be the prior uterine scar. After completion of a course of antenatal corticosteroids, the patient underwent exploratory laparotomy, abdominal delivery of a live, male neonate, hysterectomy and appendectomy. The patient experienced an unremarkable postoperative course and was discharged on postoperative day 4. The infant was discharged on hospital day 83 with chronic lung disease, stage 1 retinopathy of prematurity, atrial septal defect and a right clubfoot; there were no additional findings at the 4-month follow-up. Pathologic examination demonstrated cornual implantation with subsequent uterine rupture. CONCLUSION: This case demonstrates the importance of maintaining a suspicion for ectopic pregnancy at advanced gestational ages and for uterine rupture even in the absence of symptoms. The case also illustrates that fetal survival can occur in cornual pregnancy.

Adult↗
PubMed1990

Fetal malformations commonly detectable on obstetric ultrasound.

A review of 364 fetuses with a total of 570 malformations discovered on ultrasound throughout the Emanuel Hospital referral pattern from 1978 to 1987 was compared to a previous multicenter study of 50,282 children from 1959 to 1965 that found minor or major congenital malformations in 6.5% of children, for a rate of 8.8 malformations per 100 children. The comparison was made to determine which of the malformations reported in the earlier study were commonly detectable on obstetric ultrasound as performed throughout the referral area and to determine what the combined prevalence of those malformations was within the general population. For the comparison, the number of patients undergoing obstetric ultrasound throughout our referral area was estimated from the number of anencephalic fetuses found. The relative prevalences of all malformations in the two groups were then determined by extrapolation. The malformations commonly detectable on ultrasound according to that comparison were then assigned the prevalences obtained from the earlier clinical study. According to this analysis, 0.7-0.8% of fetuses have major malformations commonly detectable on ultrasound, for a rate of 1.2 malformations per 100 fetuses. That represents about 13% of all malformations and about 27% of major malformations. If cardiovascular abnormalities, cleft lip and clubfoot were usually detected, the rate of malformations considered commonly detectable would increase to 2.7 per 100 fetuses. That would represent about 31% of all malformations and about 63% of major ones.

Anencephaly↗
PubMed1989

[A case of fulminant hepatitis after reexposure to halothane six years later].

We reported a case of halothane-induced fulminant hepatitis with acute renal failure which developed 6 days after reexposure to halothane. The patient was a 58-year-old female. She had a history of liver dysfunction after exposure to halothane 6 years previously. She had surgical treatment of clubfoot under halothane anesthesia in other hospital. Preoperative physical examination and laboratory data were normal. On the 6th post-operative day she abruptly developed high fever and general fatigue. Next day, she was transferred to our hospital. At admission, fulminant hepatitis complicated with acute renal failure was diagnosed with severe liver and renal damage. She was immediately treated with plasma exchange, glucose-insulin therapy, and hemodialysis. Serum transaminase level returned to normal value within a week. However, despite repeated hemodialysis, renal function did not improve, and she died of P. aeruginosa sepsis on 28th day after the operation. It may be suggested that in this patient hypersensitivity to halothane has persisted during the six years.

Acute Kidney Injury↗
PubMed1989

Correction of complicated extremity deformities by external fixation.

Thirty-three limb segments with various deformities in 28 children were treated by external fixation. Sole bone lengthenings and trauma cases were excluded from this study. The Wagner device was used in six cases, the Ilizarov ring fixator in seven, and the Orthofix in 20. Indications, techniques, results, and complications are discussed. The results indicate that modern external fixation is an effective alternative method in the treatment of problem cases such as congenital pseudarthroses, severe relapsed or neglected clubfoot, high dislocated hips, and limb deformities with length discrepancies.

Adolescent↗
PubMed1988

The 22q distal trisomy syndrome in a recombinant child.

A 4-month-old male infant with 22q distal trisomy and karyotype 46,XY,rec(22), dup q,inv(22)(q13q12)mat is reported. This and six previous similar instances are compared, and a distinct syndrome is delineated as follows: growth and psychomotor retardation, microcephaly or hydrocephaly, brain malformation, defective skull ossification, hypertelorism, narrow palpebral fissures, short broad nose, cleft palate with or without lip involvement, short neck, cardiac defect, renal and genital hypoplasia, osteoarticular abnormalities (mostly clubfoot), and poor survival. In addition, this syndrome is distinct from other duplications of chromosome 22, namely the complete trisomy, the proximal trisomy, and the cat-eye phenotype.

Abnormalities, Multiple↗
PubMed1988

Habitual toe-walking: evaluation and approach to treatment.

Habitual toe-walking has been presented as a prolongation of a normal stage of development that requires conservative treatment to prevent or ameliorate associated gait abnormalities such as tripping and falling. An approach to the evaluation of a child with toe-walking should include (1) medical history (prenatal, intrapartum, and postnatal), (2) gait evaluation, (3) musculoskeletal examination, and (4) neurologic examination. Pathologic entities producing toe-walking have been explored in order to differentiate those conditions from idiopathic (habitual) toe-walking. The most common etiologies of toe-walking (nonhabitual) would include gastrosoleus equinus, clubfoot, or cerebral palsy. Treatment of habitual toe-walkers might include shoe therapy, orthosis therapy, auditory feedback, and surgery.

Central Nervous System Diseases↗
PubMed1987

Foot and ankle problems.

The most common reason for children presenting to the general or the pediatric orthopedist has to do with foot problems. The usual age group ranges from the neonate to preschool. The authors have made an attempt to present guidelines for our approach to foot problems other than clubfoot in these age groups and have rendered our recommendations for treatment. We feel that pediatric and general orthopedists will be able to utilize our methods in the management of the pediatric patient with the more commonly presenting foot disorders.

Ankle↗
PubMed1987

[Amniotic disease. Apropos of a series of 20 cases].

Twenty patients with congenital constriction band syndrome are reviewed. Clinical manifestations and associated anomalies were analyzed with attention directed to distribution of the involvement and course of treatment. Constriction bands, amputation, and acrosyndactyly are the main clinical manifestations of the syndrome. Involvement of the distal portions of the extremity is most common, and the central digits are more frequently affected. Clubfoot deformity is the most frequently associated anomalies, those, associated, with deep constriction band at the below knee level are more severe and were due to compression neuropathy.

Amniotic Band Syndrome↗
PubMed1986

[Ehlers-Danlos syndrome--clinico-pathology and orthopedic treatment].

Eight cases of Ehlers-Danlos syndrome (EDS) were surveyed for clinical manifestations and orthopaedic treatment. Cases of EDS were clinically subdivided into three groups. The first group was characterized by multiple congenital contractures in the extremities, so that it was very difficult to distinguish it from arthrogryposis multiplex congenita in early infancy. Since laxity of the soft tissue coexists with contracture in this group, over-correction of deformity caused much more disability than under-correction, especially in clubfoot. Care should therefore be taken to avoid this. The third group was characterized by marked laxity of the soft tissue from birth. Diagnosis in this group was easily made by the obvious triad of EDS. Lengthy immobilization in an appropriate position was necessary to maintain a corrected position for the treatment of any deformity in the hip, foot or hand. In the second group, deformity and disability were clinically so mild that no orthopaedic management was generally required.

Child, Preschool↗
PubMed1977

[Radiological study of arthrogryphosis. 20 cases (author transl)].

Arthrogryphosis, a disease of unknown nature, is accompanied by radiological manifestations which involve essentially the limbs and spine. A distribution involving all four limbs is the most common. The commonest radiological abnormalities are equinovarus clubfoot, clubhand in ulnar deviation, scoliosis and dislocation of the hip. The radiologist examines such children in order to assess the extent of their disease and follow such orthopaedic problems as they may develop.

Arthrogryposis↗
PubMed1978

Pathology of congenital metatarsus varus and its relationship to other congenital deformities of the foot.

Congenital metatarsus varus may be regarded as a deformity caused by a dislocation and in that respect is similar to congenital clubfoot and vertical talus but not to calcaneovalgus. The dislocation causes adaptive bone changes as well as secondary contracture of the soft tissues. That the dislocation in the forepart of the foot may occur in a maximally dorsiflexed foot also may explain the valgus position of the hindfoot. The secondary changes in bone and soft tissue may explain the lack of spontaneous recovery and the difficulties in effecting correction in severe cases. It is still not possible to explain why the dislocation arises.

Foot Deformities, Congenital↗
PubMed1984

[2 autopsy cases of congenital muscular dystrophy of Fukuyama type--a typical and an atypical cases].

Two autopsy cases of congenital muscular dystrophy of Fukuyama type (F-CMD) were described. The first case was diagnosed clinically and pathologically as its typical case. Neither his family history nor the history of his prenatal period were contributory. He had suffered from muscle weakness and atrophy since his birth. Serum CPK was markedly elevated. EMG and muscle biopsy proved dystrophic changes of the skeletal muscles. In addition, he manifested mental retardation and attacks of convulsion. EEG failed to elicit remarkable changes, but PEG represented ventricular dilatation. He died of respiratory insufficiency at age 12. His postmortem examination showed variegated anomalies in the nervous system. Extensive micropolygyria was present in the cerebrum and cerebellum accompanied by adhesions between the bilateral cerebral hemispheres. Assymmetry of the longitudinal fibers was pointed out in the pontine base. Anterior horn cells were atrophic and moderately depopulated. On the other hand, the second patient was an atypical F-CMD case in symptoms, signs and pathology. His grand-mothers on both father's and mother's sides wee first cousins. His three siblings showed no similar disorders. His mother developed slight gestational toxicosis in the sixth and seventh months of pregnancy. His muscle weakness, contracture of the bilateral hip-joints and clubfoot had been observed since his birth. Physical and neurological examinations at age 6 showed deformity of the skull, myopathic face, macroglossia, high-arched palate, pigeon chest, scoliosis of the thoracic spine. In addition, generalized muscular atrophy, hypotonia and areflexia were recognized. Pseudohypertrophy of the muscles was absent. Sensation was intact to all modalities. Serum CPK and LDH were moderately increased.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗