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PubMed2000

[A neonatal case of congenital myotonic dystrophy].

Congenital myotonic dystrophy is a rare autosomal disease, caused by an increased number of cytosine-thymine-guanine (CTG) trinucleotide on chromosome 19q. In the neonatal period the most peculiar clinical features are arthrogryposis, hypotonia, facial diplegia, respiratory and feeding difficulties. Clinical and electrical myotonic discharges are difficult to elicit in the newborn. We report a case of congenital myotonic dystrophy in a female newly born presenting with hypotonia, diaphragmatic paralysis, facial diplegia, and contractures of hips, knees and ankles. The diagnosis was confirmed by genetical study on lymphocyte DNA.

Female↗
PubMed2001

Therapy in unilateral sirenomelia: report of one case.

A 17-month-old male infant was referred to us with a unilateral sirenoid malformation in 1970. Besides urogenital and lumbosacral vertebral defects, the right knee was flexed 160 degrees, and the hip externally rotated and abducted. The thigh and calf were connected by a soft tissue bridge with the heel fixed to the ischial region. Arteriography showed that the foot and lower leg were supplied by the profunda femoris artery through the soft tissue bridge. The lower leg had only a very small supply from the popliteal artery. Therefore, an amputation by disarticulation at the knee joint was performed. A few months later, in addition, the hip flexion contracture was released. The boy was taught to walk with a prosthesis. At the age of 31 years, he has a sedentary job and is more troubled by his urogenital than his orthopaedic defects. He prefers to walk with crutches and for a few years has no longer used his prosthesis.

Amputation, Surgical↗
PubMedDate not supplied

Congenital varicella syndrome as an unusual cause of congenital malformation: report of one case.

Intrauterine infections with varicella-zoster virus following maternal varicella in early pregnancy and resulting in congenital malformations are rare. Herein we report a child with congenital varicella syndrome characterized by low birth weight, cicatricial scarring, hypoplasia of both lower extremities with joint contracture, congenital hip dislocation, corneal opacity, atresia of the sigmoid colon and a rarely associated cloaca anomaly. The varicella IgG remained positive after she was seven months old. Her mother developed chickenpox at the 14th week of gestation. The purpose of this article is to raise pediatricians' index of suspicion for congenital varicella syndrome when an infant is born with multiple congenital malformations with an apparent history of maternal varicella infection.

Abnormalities, Multiple↗
PubMed2001

Intermediate rehabilitation outcome in below-knee amputations: descriptive study comparing war-related with other causes of amputation.

AIM: To asses the intermediate rehabilitation outcome of patients with war-related below-knee amputations and compare it with the patients with other causes of amputation. METHOD: The study comprised 74 patients with below-knee stumps admitted for rehabilitation at the Department of Physical Therapy and Rehabilitation, Split University Hospital, Croatia, in 1994. They were fitted with a preliminary prosthesis, a donation from the Finish Red Cross. The rehabilitation was performed by a professional team and included regular bandaging of the stump, exercises to prevent knee and hip joint contracture, general fitness exercises, standing-up, falling and walking exercises, and electrostimulation of the thigh muscles. The time to reach each rehabilitation phase (walking with 2 crutches, walking with 1 crutch, walking with no crutches) was measured. The satisfaction of the patients with the prosthesis was also assessed at the end of rehabilitation. RESULTS: Among 74 patients with below knee amputation, war trauma was the cause for amputation in 31 patients, and in 6 of them the amputations were bilateral. Patients with war-related below-knee amputations were younger than the patients with amputations related to vascular disease, including diabetes. The rehabilitation time was significantly shorter in patients with war-related amputations (61.1+/-11.4 days to walking with no crutches) compared with patients with vascular disease-related amputations (80.9+/-8.1 days; p<0.001). The satisfaction with the prosthesis was more variable in patients with war-related amputations than in other patients. CONCLUSION: Early physical rehabilitation and replacement of the lost extremity with a preliminary prosthesis is an optimal intervention in below-knee amputations due to war-injury. Special attention should be paid to the psychological support to these patients during rehabilitation therapy.

Aged↗
PubMed1976

Electromyography before and after surgery for hip deformity in children with cerebral palsy. A comparison of clinical and electromyographic findings.

Twenty-three ambulatory children with spastic diplegic cerebral palsy were evaluated clinically and by electromyography before and after hip-muscle surgery. The stretch tests originally designed to distinguish specific muscle tightness and spasticity were found to be non-specific when tested by electromyography. Ambulatory electromyograms using needle electrodes and telemetry generally showed decreased activity in the released muscles and, on occasion, changes in activity in muscles not operated on. These unanticipated changes after release may explain some of the unpredictability of results of such procedures in cerebral palsy.

Adolescent↗
PubMed1976

Congenital deformities about the knee.

Congenital deformities about the knee are the result of abnormalities of all the anatomical structures that make up this joint. In some cases the structural changes observed are due to primary disorders of formation and growth of one or more of the anatomical components of the knee. Disorders are known to occur in the integumentary, muscular, ligamentous supporting, and skeletal systems. Examples of these disorders are seen in the bone dysplasias and joint laxity syndromes. In other cases exaggerated intrauterine positions of the limb seem to bring about certain adaptive changes in the embryological development of this joint. Epiphyseal dysplasias can lead to precocious arthropathy. Subluxation of the patella is often an indicator of a ligamentous laxity syndrome. It can also occur as a result of anatomical abnormalities of the femoral condyles or be due to congenital or acquired quadriceps fibrosis. Hypoplasia of the patella with dislocation is seen in the nail-patella syndrome.

Abnormalities, Multiple↗
PubMed2004

[Analysis of some related factors of effect on gluteus muscle contraction].

OBJECTIVE: To study some related factors of effect on gluteus muscle contraction and provide the therapeutic basis. METHODS: The curative effect was assessed in 154 patients who were classified by age, patient's condition, orthopedic degree in operation and rehabilitation with an average follow-up period of 25 months(ranging from 5 to 36 months). RESULTS: The excellent rate of 18-24 years old (25/30) was lower than that of 5-17 years old(120/124) (P < 0.05); the excellent rate of slight patients was higher (107/109) than that of serious patients (38/45) (P < 0.01); the excellent rate from higher orthopedic degree was higher (111/113) than that from lower orthopedic degree (34/41) (P < 0.01); and the excellent rate of rehabilitation was much higher (107/110) than that of general treatment (38/44) (P < 0.05). CONCLUSION: Age, patient's condition, orthopedic degree in operation and rehabilitation are important factors to affect the curative effect on gluteu muscle contraction.

Adolescent↗
PubMed2004

A review of 35 cases of asymmetric crying facies.

A review of 35 cases of asymmetric crying facies: Congenital asymmetric crying facies (ACF) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle (DAOM) on one side of the mouth. It is well known that this anomaly is frequently associated with cardiovascular, head and neck, musculoskeletal, respiratory, gastrointestinal, central nervous system, and genitourinary anomalies. In this article we report 35 ACF patients (28 children and 7 adults) and found additional abnormalities in 16 of them (i.e. 45%). The abnormalities were cerebral and cerebellar atrophy, mega-cisterna magna, mental motor retardation, convulsions, corpus callosum dysgenesis, cranial bone defect, dermoid cyst, spina bifida occulta, hypertelorism, micrognatia, retrognatia, hemangioma on the lower lip, short frenulum, cleft palate, low-set ears, preauricular tag, mild facial hypoplasia, sternal cleft, congenital heart defect, renal hypoplasia, vesicoureteral reflux, hypertrophic osteoarthropathy, congenital joint contractures, congenital hip dislocation, polydactyly, and umbilical and inguinal hernia. Besides these, one infant was born to a diabetic mother, and had atrial septal defect and the four other children had 4p deletion, Klinefelter syndrome, isolated CD4 deficiency and Treacher-Collins like facial appearance, respectively Although many of these abnormalities were reported in association with ACF, cerebellar atrophy, sternal cleft, cranial bone defect, infant of diabetic mother, 4p deletion, Klinefelter syndrome, isolated CD4 deficiency and Treacher-Collins like facial appearance were not previously published.

Abnormalities, Multiple↗
PubMed2004

[Infant walkers: the prevalence of use].

UNLABELLED: Infant walkers are mobile wheeled seats that allow infants to move around with their feet on the floor. They enable precocious locomotion in very young, otherwise prelocomotor infants. Prelocomotor walker experience prevents visual access to the moving limbs. Infant walker use can be associated with delay in achievement of normal locomotor milestones. Besides delayed motor development, contractures of the calf muscles and motor development mimicking spastic diparesis may appear. In the case of infant walker's use for the infants at risk for development of cerebral palsy, multiple side effects can be produced: the persistence of positive support reflex, heel cord contractures, subluxation and dislocation of the hips or pronation contractures of the upper extremities. The use of infant walkers increases the risk of injuries. The study has enrolled 150 children and their mothers, from three big cities in Bosnia and Herzegovina (Sarajevo, Bihać, Zenica). All relevant data have been collected through the questionnaires. 130 children (86.6%) have used infant walkers. The mean age when the use of infant walker has started was 7 months. The mean time of daily use of infant walker was 1 hour 49 minutes. Twenty three children had various motor disturbances, 13 out of them (56.5%) have used infant walker. The mild injuries caused by using the infant walkers have been registered in 17 cases (11.3%). 83 mothers (55.3%) were aware of infant walker's nocuous effects. CONCLUSION: The use of infant walkers has been spread widely under our circumstances. There is significant discrepancy between mothers' knowledge about nocuous effects of infant walkers and their practice. The use of infant walkers for infants with motor disturbances is especially harmful. The main reason for using infant walker, despite of its harmfulness, was mother's preoccupation with everyday household activities. It is necessary to engage health professionals to support antiwalker campaign (warning labels on the infant walkers, public education programs, etc). We recommend safer alternatives for child daycare, like stationary activity centers (so called "fenced play gardens".

Bosnia and Herzegovina↗
PubMed1990

Intertrochanteric corrective osteotomy in slipped capital femoral epiphysis. A long-term follow-up study of 26 patients.

The results of intertrochanteric corrective osteotomy in a series of 26 hips with moderate to severe chronic slipped capital femoral epiphysis are reported from follow-up studies in 1976 and 1986. In hips with a slippage of less than 40 degrees (ten hips), arthrosis was present in one hip. In the remaining 16 cases in which slippage exceeded 40 degrees, osteoarthrosis was present in 15, even though correction was adequate. From these observations it can be concluded that intertrochanteric corrective osteotomy does not prevent degeneration in cases with the most severe slip. On the basis of the present observations on treated and untreated cases, the authors advocate treatment by fixation without realignment, accepting the deformity in moderate and severe chronic slips. Rotational osteotomy may be considered in the event of hip joint contracture.

Adolescent↗
PubMed1989

Dural penetration by interspinous process segmental spine instrumentation: case report.

A case of pseudo-meningocele complicating posterior spine fusion with interspinous process segmental spinal instrumentation is presented. The L rod rotated postoperatively 90 degrees and penetrated the dura. The presenting symptoms were pain accompanied by fixed lumbar and hip flexion contractures that improved dramatically after removal of the penetrating part. The unusual course as well as the treatment and recommendation for prevention are discussed.

Adolescent↗
PubMed1988

Loss of lumbar lordosis. A complication of spinal fusion for scoliosis.

Symptomatic loss of lumbar lordosis is a disabling complication of scoliosis surgery. This so-called "flat-back syndrome" is characterized by an inability to stand erect and by upper back pain. Distraction instrumentation extending into the lower lumbar spine or sacrum is the most frequently identified etiologic factor responsible for loss of lordosis. The more distal the level of instrumentation, the severer the loss of lumbar lordosis. Other factors that may aggravate the loss of lordosis include thoracolumbar kyphosis, fixed thoracic kyphosis, hip flexion contractures, and pseudoarthrosis. Because of the wide range of values for kyphosis and lordosis in normal individuals, there is no absolute value that can be considered "normal." It is the overall sagittal plane balance that is most important. The most useful radiographic measurement to evaluate this sagittal plane balance is the full-length standing lateral radiograph with the knees extended. On this view, the C7-S1 measurement should fall within 2 cm of the anterior aspect of the sacrum. Surgical treatment for symptomatic loss of lumbar lordosis consists of closing wedge osteotomies through the fusion mass. This should generally be preceded by an anterior release and interbody fusion. Correction should be obtained at the site of the deformity with particular attention paid to the thoracolumbar junction. The surgery is difficult and the risk of complication is high. The most important aspect of this postural disorder is prevention. Avoid distraction instrumentation that extends into the lumbar spine if possible. When distraction instrumentation is used, the techniques described will help preserve lumbar lordosis. When performing a fusion to the sacrum, distraction instrumentation should not be used.

Humans↗
PubMed1986

Pentazocine induced myocutaneous sclerosis.

A patient who developed myocutaneous sclerosis as a result of aggressive parenteral administration of the analgesic pentazocine is described and the literature reviewed. In addition to the dermatopathologic and myopathic abnormalities usually present in this disorder, our patient manifested unique features of brachial plexus neuropathy and radiographically evident soft tissue calcification. Our report serves as a reminder that caution should be employed when the use of pentazocine as a longterm analgesic agent is considered.

Calcinosis↗