Query: congenital absence of limbs

title: GOLLOP WOLFGANG COMPLEX A CASE REPORT
abstract: Around 205 limb abnormalities have been described. Congenital absence of tibia is a rare and severe lower limb malformation with an incidence of approximately 11,000,000 live births. Here we present an infant who had multiple limb deformities bifurcated femur, absent tibia, ectrodactyly of upper lower limbs. These features typically fitted into a complex called GOLLOP WOLFGANG COMPLEX(GWC)

title: Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum case report and literature review
abstract: Caudal regression syndrome is a rare disorder, not well described in the literature.  Authors treated two patients with congenital absence of thoracolumbar vertebrae and lower limbs paraplegia. Patients had hypoplasia of the lower trunk and extremities with motion between upper and lower torso. Imaging showed caudal spine agenesis, but cleft sacrum was present. Due to severe kyphotic deformity and spinal instability, deformity correction and posterior fusion was performed at the age 6 and 8. Finally, fusion was achieved in one case and stable but non fusion kyphotic posture was observed in second.  surgery in caudal regression syndrome is challenging and bears high risk of complications.

title: THE ATHLETE WITH LIMB DEFICIENCY LIMB DEFICIENCY
abstract: Sports participation has many psychological and physical benefits for individuals with limb deficiency. A limb deficiency may be simply defined as the absence of part, or all, of one or more limbs. A limb deficiency may be congenital or acquired from trauma or disease. As is true for all individuals with impairments, exercise forms a vital part of a successful rehabilitation process and integration into society. Many individuals and organisations are working diligently to improve the health and wellness of individuals with impairments by improving access to sports participation1. A primary focus of these efforts is to offer more opportunities for individuals with impairments to develop and maintain lifelong habits of engaging in physical activity. Research has shown that lower limb amputees are at higher risk for certain health issues compared with the general population. A decline in activity level after an amputation can lead to conditions such as obesity, contractures, diabetes, cardiovascular disease, low self esteem and other medical and psychological conditions2. Studies of war amputees have found higher rates of ischaemic heart disease and diabetes mellitus, with one study reporting a 63% higher mortality rate from cardiovascular disease2. Experts investigating these associations have concluded that decreased physical activity is the cause of these health problems. Other reports have shown multiple health benefits to physical activity for amputees, including improvements in coping, mood, self esteem and cognitive abilities, as well as in strength, cardiopulmonary endurance, muscle coordination and balance3 5. Therefore, it is important for physicians to help individuals with limb deficiency stay active. However, barriers to participation in sport remain6,7. A survey of lower extremity amputees shed some light on these barriers. Sixty percent of respondents reported being active in sport or recreational activities. Respondents who reported lower activity levels generally had limb loss because of peripheral vascular disease. Reasons for not participating in sport included pain, embarrassment, insufficient training and lack of organised sports programmes. The activities that were most uncomfortable for this cohort were running and jumping. The most popular recreational activities reported were swimming and fishing8. Fortunately, the number of opportunities to participate in sport has been increasing. Numerous adaptive sports organisations have been developed around the world. The Paralympic Games are the largest competitive event for athletes with physical impairments and have included athletes with limb deficiencies since 1976. The goal of this article is to summarise the available information on biomechanics, prosthetic considerations, clinical evaluation and psychological issues pertinent to amputee athletes, in order to assist physicians in keeping athletes with limb deficiencies active.

title: Rehabilitation of femoral fibular amelia: A case report
abstract: Congenital limb defects are fetal anomalies with birth. Amelia is extremely rare birth defect marked by the complete absence of or more limbs. Congenital limb defects are rare fetal anomalies with a birth prevalence of 0.55 per 1,000. Amelia is an extremely rare birth defect marked by the complete absence of one or more limbs. We report a case of fetal amelia, ultrasound findings, manifestations and the fetal outcome. We report a case of a femoral fibular amelia x ray findings and the other outcomes.

title: A Case Report Of Sirenomelia Sympus Dipus Mermaid Syndrome
abstract: Sirenomeliasympusdipus or mermaid syndrome is a rare and fatal congenital condition, which is not associated with chromosomal anomalies. The fusion of the lower extremities characterizes it to form one single lower limb, sacral and pelvic bony anomalies, absent external genitalia, imperforate anus, and renal agenesis or dysgenesis and its etiology remains unclear. There are approximately 300 cases reported in the literature. This syndrome is incompatible with life due to the association of several congenital visceral abnormalities. Our case was a live born, normally delivered by assisted breech vaginal delivery at preterm by a 19 year old second gravida of lower socioeconomic status. Examination of the baby revealed caudal dysgenesis having fusion of lower limbs. The extremities and both feet were fused with webbing of the toes and absence of external genitalia and anus. The baby died minutes after birth and we report this case due to its rarity and term live birth.  2018 Date of acceptance: 16 11 2018

title: The earliest sense of self and others: Merleau Ponty and recent developmental studies.
abstract: Recent studies in developmental psychology have found evidence to suggest that there exists an innate system that accounts for the possibilities of early infant imitation and the existence of phantom limbs in cases of congenital absence of limbs. These results challenge traditional assumptions about the status and development of the body schema and body image, and about the nature of the translation process between perceptual experience and motor ability. Merleau Ponty, who was greatly influenced by his study of developmental psychology, and whose phenomenology of perception was closely tied to the concept of the body schema, accepted these traditional assumptions. They also informed his philosophical conclusions concerning the experience of self and others. We re examine issues involved in understanding self and others in light of the more recent research in developmental psychology. More specifically our re examination challenges a number of Merleau Ponty's conclusions and suggests, in contrast, that the newborn infant is capable of a rudimentary differentiation between self and non self.

title: Congenital Osteopetrosis in White tailed Deer (Odocoileus Virginianus)
abstract: Inferior brachygnathia in neonatal fawns occurred sporadically over a 10 yr period in a captive herd of white tailed deer (Odocoileus virginianus) in southern Ontario. Two fawns submitted for necropsy had marked inferior brachygnathia, protruding tongues, and fractured long bones. Radiographs of the limbs revealed longitudinal striations of relatively translucent immature woven bone that caused loss of distinction between medullary cavities and cortices. Microscopically, there was failure of remodelling of the primary spongiosa and filling of the medulla by cone shaped chondro osseous cores. The findings supported a diagnosis of osteopetrosis, usually a hereditary disease characterized by absence of marrow cavities as a result of defective bone remodelling. Osteopetrosis has not been reported previously in deer.

title: Congenital hypomyelination neuropathy in a newborn infant: unusual cause of diaphragmatic and vocal cord paralyses.
abstract: We report a case of congenital hypomyelination neuropathy presenting at birth. The infant had generalized hypotonia and weakness. There was decreased respiratory effort along with a right phrenic nerve and left vocal cord paralyses. Tongue fasciculations were present. Deep tendon reflexes were absent in the upper extremities and hypoactive (1+ in the lower extremities. Magnetic resonance imaging of the head revealed no intracranial abnormalities, including normal cerebral myelination. Nerve conduction study showed absence of motor and sensory action potentials in the hands when the nerves in the upper limbs were stimulated. A motor response could be elicited only in the proximal leg muscles. Needle electromyography study was normal in the proximal limb muscles, but showed active denervation in the distal muscles of the arm and leg. These findings were thought to be consistent with a length dependent sensorimotor peripheral polyneuropathy of axonal type with greater denervation of the distal muscles. A biopsy of the quadriceps muscle showed mild variability in fiber diameter, but no group typing or group atrophy. The muscle fibers showed no intrinsic abnormalities. Biopsy of the sural nerve showed scattered axons with very thin myelin sheaths. There was also a nearly complete loss of large diameter myelinated fibers. No onion bulb formations were noted. These findings were thought to be consistent with congenital hypomyelination neuropathy with a component of axonopathy. DNA analysis for identification of previously characterized mutations in the genes MPZ, PMP22, and EGR2 was negative. Several attempts at extubation failed and the infant became increasingly ventilator dependent with increasing episodes of desaturation and hypercapnea. He also developed increasing weakness and decreased movement of all extremities. He underwent surgery at 2 months of age for placement of a gastrostomy tube and a tracheostomy. He was discharged from the hospital on a ventilator at 6 months of age. The infant was 13 months old at the time of submission of this report. Although he appears cognitively normal, he remains profoundly hypotonic and is on a home ventilator. There was no evidence of progressive weakness. Congenital hypomyelination neuropathy is a rare form of neonatal neuropathy that should be considered in the differential diagnosis of a newborn with profound hypotonia and weakness. It appears to be a heterogeneous disorder with some of the cases being caused by specific genetic mutations.

title: Bilateral Deep Vein Thrombosis Associated with Inferior Vena Cava Agenesis in a Young Patient Manifesting as Low Back Pain.
abstract: Congenital absence of the inferior vena cava is a rare vascular anomaly, and most cases are asymptomatic. Nevertheless, patients with inferior vena cava malformations may have increased risk of deep venous thrombosis. Particularly, cases of bilateral deep venous thrombosis may arise owing to an insufficient collateral venous drainage from the lower limbs. We hereby describe a case of a previously healthy young male patient presenting with bilateral lower limb deep venous thrombosis as the initial clinical manifestation of congenital inferior vena cava agenesis. We conclude that in young patients presenting with deep venous thrombosis, especially when thrombosis occurs spontaneously, bilaterally, or recurrently, inferior vena cava anomalies should be thoroughly investigated and ruled out as appropriate.

title: Aplasia cutis congenita of the scalp what are the steps to be followed? Case report and review of the literature*
abstract: Aplasia cutis congenita is a rare malformation characterized by localized congenital absence of the skin. It rarely occurs on the trunk and limbs, and can occur in isolation or as part of a heterogeneous group of syndromes. We report a case of a 4 day old boy with a 5.6 cm diameter tumor, with a central crust, non indurate and no inflammatory rim; localized on the scalp and a small, atrophic hairless scar appeared 6 months later (approximately 5cm in length) at the site of the previous tumor.