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Limb contractures are debilitating complications associated with various muscle and nervous system disorders. This report summarizes presentations at a conference at the Shirley Ryan AbilityLab in Chicago, Illinois, on April 19-20, 2018, involving researchers and physicians from diverse disciplines who convened to discuss current clinical and preclinical understanding of contractures in Duchenne muscular dystrophy, stroke, cerebral palsy, and other conditions. Presenters described changes in muscle architecture, activation, extracellular matrix, satellite cells, and muscle fiber sarcomeric structure that accompany or predispose muscles to contracture. Participants identified ongoing and future research directions that may lead to understanding of the intersecting factors that trigger contractures. These include additional studies of changes in muscle, tendon, joint, and neuronal tissues during contracture development with imaging, molecular, and physiologic approaches. Participants identified the requirement for improved biomarkers and outcome measures to identify patients likely to develop contractures and to accurately measure efficacy of treatments currently available and under development.

On November 28, 2016, the Texas Department of State Health Services (Texas DSHS) reported its first confirmed case of local mosquitoborne Zika virus transmission in the city of Brownsville, located in south Texas along the U.S.-Mexico border. Zika virus infection during pregnancy has been linked to adverse congenital outcomes including microcephaly, neural tube defects, early brain malformations, structural eye abnormalities, congenital deafness, and limb contractures (1). On January 1, 2016, Texas DSHS established enhanced surveillance to identify women with laboratory evidence of possible Zika virus infection during pregnancy and suspected cases of Zika virus-associated birth defects among completed pregnancies.

Background/Purpose The increasing prevalence of abdominal wall defects prompted analysis of anomalies associated with gastroschisis and omphalocele in the Texas Birth Defects Registry (TDBR). Methods Cases of gastroschisis (ICD9 code 756.71), omphalocele (756.70), and/or unspecified anomalies of the abdominal wall (756.79) were obtained from the TDBR after IRB approval and analyzed using Microsoft Access© and Excel© databases. Results Analysis began with 2825 cases including 1831 of gastroschisis, 814 of omphalocele, and 180 of unspecified abdominal wall defects plus 9680 associated anomalies that were classified according to system. The overall prevalence of abdominal wall defects among 3,806,299 Texas births from 1999 to 2008 was 7.4 per 10,000 with 4.8 per 10,000 for gastroschisis and 2.1 for omphalocele. After excluding ambiguous cases (8.5% possibly misclassified), anomaly spectra were similar for the two AWD with musculoskeletal (limb contractures or defects), cardiovascular, gastrointestinal, urogenital, and central nervous system defects being most common. Of 1831 cases with gastroschisis, 594 (32%) had associated anomalies compared to 654 (80%) of 814 omphalocele cases. Conclusions Gastroschisis as well as omphalocele has significant associated anomalies that are important to appreciate during pre- and postnatal management.

An extremely unusual case of central core disease combined with a congenital spine deformity is described. The congenital myopathy was non-progressive, but the scoliotic curve worsened markedly. This case was characterised also by the type of squatting ambulation the child used until the age of 12, when the limb contractures were corrected surgically and with casting, permitting her to walk in an upright position. It was not feasible to perform spinal surgery.

Experience in treatment of limb contractures and deformities in children with congenital arthrogryposis is presented. The main principles of treatment were detected. Complex of diagnostic and curative measures including conservative treatment of patients stating from birth is described in details. Conservative treatment consists of therapeutic exercises, massage, physiotherapy, special braces and plaster bandages. Surgical treatment method using external fixation devices is presented. The method of biocontrol disturbance detection is given and the use of functional biocontrol (FBC) method for the treatment of this pathology is well grounded. Early results of FBC use are evaluated as positive ones that confirms the expedience of further use of FBC for the treatment of patients with congenital arthrogryposis.

Objectives. To evaluate the current indications and outcome of open stone surgery in a tertiary endourology unit. Methods. A 3-year retrospective review (1990 to 1993) of all endoscopic and open stone surgery was undertaken. Results. Twenty-five open procedures were performed on 20 patients of a total of 799 stone treatment procedures (3.13%). The most common indications for open stone surgery included large stone burdens in association with abnormal anatomy limiting endoscopic access (31%), concurrent open surgical procedures (24%), or previous failed endourologic procedures (17%). Anatomic factors contributing to the need for open surgery included renal transplantation, morbid obesity, and severe limb contractures. Conclusions. Open stone surgery has become more complex. Patients undergoing open surgery, who failed endourologic techniques, or for anatomic or medical reasons, currently are the cohorts who may still benefit from treatment for calculus disease using open surgical techniques.

Limb contractures are a common impairment in neuromuscular diseases. They contribute to increased disability from decreased motor performance, mobility limitations, reduced functional range of motion, loss of function for activities of daily living, and increased pain. The pathogenesis of contractures is multifactorial. Myopathic conditions are associated with more severe limb contractures compared with neuropathic disorders. Although the evidence supporting the efficacy of multiple interventions to improve range of motion in neuromuscular diseases in a sustained manner is lacking, there are generally accepted principles with regard to splinting, bracing, stretching, and surgery that help minimize the impact or disability from contractures.

Neu-Laxova is a rare, uniformly lethal, autosomal recessive condition with characteristic limb posturing, facial dysmorphic features, and central nervous system abnormalities. Forty-two cases of Neu-Laxova syndrome have been reported, with only four of these diagnosed prenatally. Three of the four cases were diagnosed at or after 32 weeks' gestation. The fourth case was diagnosed at 22 weeks' gestation in a patient who was followed with serial ultrasound studies due to having a prior affected child. At 19 weeks' gestation, we present the earliest reported prenatal diagnosis of Neu-Laxova syndrome in a primigravida with a non-informative family history. Copyright © 2002 John Wiley & Sons, Ltd.

Summary The ex utero intrapartum treatment procedure allows for the controlled management of a potentially life-threatening difficult airway in the newborn. General anesthesia has previously been reported for the management of this procedure. We report the use of continuous spinal anesthesia in conjunction with intravenous nitroglycerin for the ex utero intrapartum treatment procedure in a woman with arthrogryposis multiplex congenita, a rare syndrome characterized by rigid joints and limb contractures.

We report a man and his son with congenital limb contractures, limitation of ocular movements, and an electroretinal abnormality. They appear to have an autosomal dominant form of arthrogryposis, distinguishable from other previously classified forms of this disorder.

Cockayne syndrome is a rare, worldwide, autosomal recessive condition.1 2 It presents most commonly in childhood as a progressive failure of growth and development. Few patients exceed 20 kg in weight or 115 cm in height. Typically the syndrome produces a thin, dwarfed child with deep set eyes, prominent teeth, and a narrow receding chin. The skin is dry, scaly, highly photosensitive, and seems prematurely aged. Neurological impairment is universal owing to generalised brain atrophy. These children are mentally retarded with impaired or absent speech. Mobility is diminished because of a combination of spasticity, ataxia, and limb contractures. Convulsions occur in 5–10% of patients. Increasing visual loss is expected because of …