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PubMed1985

A lethal autosomal recessive syndrome of multiple congenital contractures.

We describe 16 cases of a lethal syndrome with multiple congenital contractures from ten families. The main clinical findings included intrauterine growth retardation with marked fetal hydrops, multiple contractures, and facial abnormalities, especially micrognathia. At autopsy, pulmonary hypoplasia and muscular atrophy were present. There was a paucity of anterior horn motor neurons in the four studied cases. We think that the cases represent the same clinical entity, probably caused by homozygosity of an autosomal recessive gene. The syndrome resembles the Pena-Shokeir I syndrome, but seems to differ in some respects, including length of survival and presence of hydrops. Prenatal diagnosis of this syndrome is possible after the 16th week of pregnancy with ultrasound.

Contracture↗
PubMed1986

A severe form of congenital contractural arachnodactyly in two newborn infants.

Congenital contractural arachnodactyly (CCA) is an uncommon condition characterized by arachnodactyly, dolichostenomelia, kyphoscoliosis, "crumpled" auricles, and flexion contractures at knees, elbows, fingers, and sometimes other joints. The long-term prognosis for affected individuals is usually relatively good. We report on two newborn infants with severe CCA, both of whom died in the first year of life. One child also had other anomalies not generally associated with this disorder. These observations are consistent with the possibility that CCA is an etiologically and clinically heterogeneous disorder.

Abnormalities, Multiple↗
PubMed2004

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.

Bruck syndrome (BS) is a recessively-inherited phenotypic disorder featuring the unusual combination of skeletal changes resembling osteogenesis imperfecta (OI) with congenital contractures of the large joints. Clinical heterogeneity is apparent in cases reported thus far. While the genes coding for collagen 1 chains are unaffected in BS, there is biochemical evidence for a defect in the hydroxylation of lysine residues in collagen 1 telopeptides. One BS locus has been mapped at 17p12, but more recently, two mutations in the lysyl hydroxylase 2 gene (PLOD2, 3q23-q24) have been identified in BS, showing genetic heterogeneity. The proportion of BS cases linked to 17p22 (BS type 1) or caused by mutations in PLOD2 (BS type 2) is still uncertain, and phenotypic correlations are lacking. We report on a boy who had congenital contractures with pterygia at birth and severe OI-like osteopenia and multiple fractures. His urine contained high amounts of hydroxyproline but low amounts of collagen crosslinks degradation products; and he was shown to be homozygous for a novel mutation leading to an Arg598His substitution in PLOD2. The mutation is adjacent to the two mutations previously reported (Gly601Val and Thr608Ile), suggesting a functionally important hotspot in PLOD2. The combination of pterygia with bone fragility, as illustrated by this case, is difficult to explain; it suggests that telopeptide lysyl hydroxylation must be involved in prenatal joint formation and morphogenesis. Collagen degradation products in urine and mutation analysis of PLOD2 may be used to diagnose BS and differentiate it from OI.

Abnormalities, Multiple↗
PubMed1979

Congenital contractural arachnodactyly: description of a new kindred.

A previously unreported case of congenital contractural arachnodactyly (CCA) is described. This hereditary connective tissue abnormality resembles Marfan's syndrome in certain respects, but is characterized by camptodactyly rather than joint laxity, as well as by congenital contractural deformities of the knees and elbows. In addition, there is a peculiar, fairly characteristic deformity of the external ear. Like Marfan's syndrome, it is transmitted in autosomal dominant fashion. Despite the superficial skeletal resemblance, however, the cardiovascular and ocular complications of Marfan's do not seem to occur and therefore differentiation of the two syndromes is important.

Adult↗
PubMed1996

Regulation of proliferation and platelet-derived growth factor expression in palmar fibromatosis (Dupuytren contracture) by mechanical strain.

Palmar fibromatosis (Dupuytren contracture) causes fibrosis of specific palmar fascial bands. These bands are subjected to repetitive mechanical strain in situ. Primary cell cultures were derived from (a) palmar fibromatosis from eight patients, (b) uninvolved palmar fascia (Skoog's fibers) from four of these patients, and (c) normal palmar fascia from four additional patients. The cells were plated onto collagen-coated membranes either subjected to cyclic strain (25% maximal strain at 1 Hz) or without strain. Bromodeoxyuridine incorporation showed an increase in proliferation in all cultures subjected to strain. This increase was highest for palmar fibromatosis (10 to 40% nuclear incorporation, p = 0.02). Skoog's fibers and fascia from the normal individuals showed a trend (not significant) toward increase with strain (8 to 25%, p = 0.15 for Skoog's fibers, and 8 to 15%, p = 0.45 for normal fascia). Cyclic strain increased the expression of platelet-derived growth factor-A relative to glyceraldehyde-3-phosphate dehydrogenase in palmar fibromatosis (2.2 to 3.5, p = 0.05) and Skoog's fibers (0.8 to 2.0, p = 0.04). The expression of platelet-derived growth factor-B relative to glyceraldehyde-3-phosphate dehydrogenase was enhanced by cyclic strain only in the fibromatosis tissue (0.7 to 2.1, p = 0.04). The normal fascia did not express platelet-derived growth factor. Platelet-derived growth factor neutralizing antibody decreased bromodeoxyuridine incorporation in fibromatosis cultures subjected to cyclic strain to near levels for those grown in the absence of strain (38 to 16%, p = 0.05). Conditioned medium from fibromatosis cells grown under stain showed a trend toward increased proliferation in additional fibromatosis cultures compared with conditioned medium from fibromatosis cells grown without strain (9 to 15% nuclear incorporation, p = 0.20). The observed palmar fibromatosis contracture can be partially explained on the basis of the cell's response to cyclic strain, which may be mediated by platelet-derived growth factor.

Antibody Specificity↗
PubMed1992

Neodymium:YAG laser treatment of bladder neck contracture following prostatectomy.

A total of 21 patients with postprostatectomy bladder neck contracture underwent treatment with Nd:YAG laser irradiation. A new 800-microns hemispherical optical quarz fiber was used in contact technique to produce linear incisions in the scarred tissue. Within 11.2 months, median of follow-up, there was improvement in the obstructive voiding symptoms in all the patients. Two patients who had still mild contracture in the first follow-up cystoscopy were managed successfully with a second treatment. Endoscopic application of laser energy in the contact mode enables the immediate vaporization and disintegration of the fibrous area and secondary reepithelization of the bladder neck without scarring.

Aged↗
PubMed1986

Expansion exercises: modifying contracture of the augmented breast.

Capsular contracture, the condition wherein fibrous tissue encapsulates the implanted silastic gel prosthesis used in breast augmentation, remains the most frequent complication in surgical enlargement of the small breast. Since the condition is a natural, wound-healing response to an implanted foreign body, management of the problem must be geared to the modification of this response. Expansion exercises, manual manipulation of the affected breast tissue for controlling capsule formation, was evaluated. Results showed that subjects who did not use expansion exercises had a higher incidence of capsular contracture than the subjects who did.

Adult↗
PubMed1995

Abduction contracture of the deltoid muscle in children.

Deltoid contracture is usually congenital and affects the intermediate part of the muscle. Fibrosis occurring in these fibres produces the contracture. Six patients are reported. Recovery occurred after resection of the fibrotic band.

Adolescent↗
PubMed1975

[Knee results of the treatment of traction contractures using the quadriceps plasty by Bennett (author's transl)].

Authors report on the results of 51 quadriceps-plasties according to Bennett in the treatment of the extension contracture of the knee. The result was influenced among others by the number of the functioning muscle fibers, by the grade of the preoperative muscular contracture and the postoperative physiotherapy and by the physical and mental development of the patients. In nearly two thirds of the cases very good and good results were achieved. Special questions of the operative technique and the postoperative function are discussed.

Adolescent↗
PubMed1976

[Aetiology of dupuytren's contracture (author's transl)].

Regarding experimental data on the multi-factorial reduction of the thermostability of collagen, the following sequence of the mechanism of Dupuytren's contracture is discussed: 1. Hereditary or acquired weakness of fibres of the palmar fascia 2. Further disturbance of the physical property of collagen by the cumulative effects of mechanical, i.e. traumatic, influence. 3. By this means an induced stepwise shrinkage of released fascial fibres in body temperature. 4. Stabilisation of the shortening (contracture) by development of collagen. This hypothesis is supported by histological, polarizing-microscopic, electron-microscopic and chemical results.

Amino Acids↗
PubMed1988

Idiopathic contracture of the gluteus maximus muscle in children.

Restriction of motion of the hip caused by contracture of the gluteus maximus is not uncommon. Twenty-seven children with this disorder were reviewed between 1975 and 1983. The clinical manifestations are very characteristic. All patients underwent surgical release of the fibrotic contracture tissue of the gluteus maximus with good results. The etiology of the disorder remains unknown. It is likely that the primary cause might be congenital in origin and that some predisposing condition exists. In addition, intramuscular injection might play an important role.

Buttocks↗
PubMed1988

Congenital contracture of the infraspinous muscle. A case report.

Posterior subluxation of the glenohumeral joint and a posterior, winged scapular deformity have been reported in a patient with congenital contracture of the infraspinous muscle. The present case was successfully treated by resection of the contracted band within the infraspinous muscle, glenoid osteotomy, reverse Putti-Platt, and resection of the protruding part of the scapula. To our knowledge, this is the first case reported of congenital contracture of the infraspinous muscle. The pathogenesis of the deformity in this case is discussed.

Adolescent↗
PubMed1987

Olivo-ponto-cerebellar atrophy with muscular atrophy, joint contractures and pulmonary hypoplasia of prenatal onset.

The clinical and pathological features of a female neonate with congenital joint contractures and pulmonary hypoplasia are described. Neuropathological examination revealed a widespread neuronal degeneration with a predominantly olivo-ponto-cerebellar distribution and muscle pathology consistent with neurogenic atrophy. This is the first reported case of congenital joint contractures and pulmonary hypoplasia with pathologically documented olivo-ponto-cerebellar degeneration. The observation further illustrates that the so-called fetal akinesia sequence or Pena-Shokeir I syndrome is an aetiologically non-specific symptom complex that can be caused by a number of underlying mechanisms.

Atrophy↗
PubMed1998

Flexion contractures associated with a malignant neoplasm: 'A paraneoplastic syndrome?'.

A 71-year-old man developed polyarthritis and, subsequently, severe flexion contractures of multiple joints, particularly the joints of the hands. Eighteen months after developing this disease a parailiacal lymph node metastasis of an unknown primary cancer was found. We suggest that this patient's history, dominated by contractures that resembled the 'palmar fasciitis and polyarthritis syndrome', should be considered as a paraneoplastic syndrome.

Aged↗
PubMed1987

The effects of quinine on the calcium and magnesium content of the sarcoplasmic reticulum and the temperature-dependence of quinine contractures.

A significant decrease in the Ca2+ and increase in the Mg2+ content of the terminal cisternae (TC) of the sarcoplasmic reticulum (SR) during quinine contraction was demonstrated by electron probe analysis of rapidly frozen frog muscles. The extent of Ca2+ release (71% of total) from the TC and the absence of an increase in total cell Ca2+ support the conclusion that quinine contractures are caused by passive efflux of Ca2+ from the SR when the latter is uncompensated due to inhibition of the SR Ca2+ pump by quinine. A rapid warming contraction (RWC) was observed, in the presence of quinine, when the temperature of intact and skinned muscles was increased from about 5 degrees C to 18-23 degrees C. The duration of the latency of quinine contracture, in intact muscle bundles, was approximately 31 s at 3 degrees C and 2 s at 23 degrees C. The results suggest a significant temperature sensitivity of the passive Ca2+ channels of the SR membrane, although an effect of temperature on the lipid partition coefficient of quinine into the SR has not been ruled out.

Animals↗
PubMed1982

Open capsulotomy for capsular contracture: a new procedure for the prevention of recurrence.

Capsular contracture is a frequent complication after breast augmentation with alloplastic implants. A technique has been developed to correct this contracture, performed through the previous operative scar. Use of a portion of the matured capsule wall as petal flaps appears to be a contributing factor in the success of this procedure. Open capsulotomy has been performed on 23 patients with good results in 20. The procedure should be performed at least 6 months after augmentation mammoplasty has been performed.

Breast↗
PubMed1983

Unilateral fibrous contracture in augmentation mammoplasty.

Of 77 augmentation mammoplasties performed using the inframammary approach from 1977 to 1982, only 4 patients (5.1%) developed spherical fibrous capsular contracture (SFCC). In each case, contracture was unilateral. Although the etiology of SFCC is unclear, in these 4 patients casual factors include mammary aplasia (which necessitated inserting too large an implant into too small a space) hematoma formation and evacuation, inevitable violation of the fascia to treat mastopathia, and inability to move the implant after secondary insertion.

Adolescent↗