Parental experience after diagnosis of a congenital upper limb difference: a national survey.

Congenital hand and upper limb differences may be detected during antenatal ultrasonography or visually at birth. We investigated the experience of parents when they first learned that their child had an upper limb difference. This national retrospective cross-sectional quantitative and qualitative survey within the UK and Ireland received 261 responses from parents of children. Differences were first suspected antenatally among 41% of respondents and in 57% postnatally, with 2% unsure. Of the children, 54% were seen in a clinic by a specialist congenital hand surgeon within 3 months and 88% within 12 months, with 73% of respondents feeling unsupported after a diagnosis that was unexpected. Qualitative analysis outlined a broad spectrum of parental concerns about the quality of information received, especially regarding the child's future biopsychosocial needs. This study showed the need for more support for parents from frontline healthcare professionals and the need for a streamlined referral pathway.Level of evidence: IV.

International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita.

Arthrogryposis multiplex congenita (AMC) has been described and defined in thousands of articles, but the terminology used has been inconsistent in clinical and research communities. A definition of AMC was recently developed using a modified Delphi consensus method involving 25 experts in the field of AMC from 8 countries. Participants included health care professionals, researchers, and individuals with AMC. An annotation of the definition provides more in-depth explanations of the different sentences of the AMC definition and is useful to complement the proposed definition. The aim of this study was to provide an annotation of the proposed consensus-based AMC definition. For the annotation process, 17 experts in AMC representing 10 disciplines across 7 countries participated. A paragraph was developed for each sentence of the definition using an iterative process involving multiple authors with varied and complementary expertise, ensuring all points of view were taken into consideration. The annotated definition provides an overview of the different topics related to AMC and is intended for all stakeholders, including youth and adults with AMC, their families, and clinicians and researchers, with the hopes of unifying the understanding of AMC in the international community.

Background to the 2nd International Symposium on Arthrogryposis.

Arthrogryposis multiplex congenital is a relatively uncommon condition, with little consensus on treatment. In 2007, the 1st International Symposium on Arthrogryposis was held in Birmingham, United Kingdom, to bring together patients, their families, and a multinational group of health care experts in the field of arthrogryposis, to discuss various aspects of the care of patients with arthrogryposis multiplex congenital. From that meeting, there was a coalescence of thought on diagnosis and classification, a sharing of practices on treatments and their outcomes, and an agreement on future directions. At the beginning of the 2nd International Symposium on Arthrogryposis held in Saint Petersburg in September 2014, Russia, these "lessons learnt" were synopsized to set the tone for the new meeting.

Problems with the upper limb in arthrogryposis.

INTRODUCTION: This short paper presents a personal view of the thinking processes around the assessment and development of individualised management plans for dealing with the problems of the upper limb in Arthrogryposis in children. BACKGROUND: The paper will offer a definition of arthrogryposis, its incidence and the range of anomalies. The problems associated with joint contractures are defined. The goals of treatment include improvement in function as well as cosmesis. PRIORITIES AND GOALS OF TREATMENT: Managing the mobility of the whole child is very important in deciding what should be offered surgically in the upper limb. Early manipulation and stretching as well as the pros and cons of splints are discussed. PRINCIPLES OF SURGICAL PROCEDURES: The principles of surgery including soft tissue release, changing the position of the arc of movement of a joint, fixing stiff joints, tendon transfers and muscle transfers are presented. The value of thumb web release and the surgical procedures commonly used are described.

Venous malformations of the limbs: the Birmingham experience, comparisons and classification in children.

The management of vascular anomalies in upper and lower limbs is complex. The current practice at Birmingham Children's Hospital is based on a multidisciplinary approach, involving plastic surgeons, interventional radiologists, vascular surgeons, dermatologists and laser specialists. This study reviews the management strategies for peripheral venous malformations (VMs) and proposes a simple classification system to aid treatment. A retrospective review was undertaken involving all paediatric patients presenting with (VMs) of the upper and lower limbs, managed by the same multidisciplinary team over a period of 3 years. A total of 33 patients were identified, of whom 19 had lesions located in the upper limb. Treatment modalities included surgery, sclerotherapy, a combination of the two and conservative management. The indications for treatment included: (1) worsening pain, (2) increased swelling, (3) reduced function, (4) bleeding or ulceration and finally, (5) cosmetic deformity. Following treatment, outcome measures with regards to the symptoms were graded into (1) improved, (2) worsened and (3) unchanged. Based on magnetic resonance imaging, we were able to apply our classification to separate the lesions into Type 1a (superficial localised): nine, Type 1b (superficial diffused): five, Type 2 (Fascia/muscle infiltration): nine, Type 3 (Bone/joint infiltration): seven and Type 4 (Extensive whole-limb infiltration): three. In patients with upper limb VMs (n=19), eight lesions (42%) were superficial and localised (Type 1a) while the rest were diffused lesions. In contrast, in the lower limb (n=14), only one lesion (7%) was superficial while the rest were diffused lesions. Lower success rate for treatment was noted in lower limb malformations (p<0.05). In eight patients with recurrence of symptoms, six had Type 3 (intra-articular) lesions. There was one major and three minor complications following treatment. An outline of the management strategies for VMs in peripheral limbs is discussed in this article. An anatomical classification is described which aids in management and communication.

Hand anomalies in Russell Silver syndrome.

Russell Silver syndrome (RSS) is a genetic disorder of unknown aetiology. The disorder is clinically and genetically heterogeneous, and various modes of inheritance and genetic abnormalities have been described. A large number of clinical features are associated with this condition. Growth retardation, typical facies, limb asymmetry, delayed bony growth and clinodactyly are some of the most constant features of RSS. We report a small series of patients presenting with a range of hand anomalies, some of which have not been previously reported in association with this condition.