1/22. A case of mirror hand deformity with a 17-year postoperative follow up. Case report.We present a case of a boy with a congenital upper-extremity malformation, including aplasia of the radius, double ulna, aplasia of the thumb, and polydactyly with a 17-year postoperative follow-up. The whole extremity, particularly the upper arm and shoulder girdle were hypoplastic. There was restriction of movement of the elbow and a flexion contracture of the wrist. At an age of 2 years he had three hypoplastic fingers resected and pollicisation of the third accessory finger. The thenar was reconstructed by interosseous muscle transfers and the flexion contracture corrected by a flexor tendon transfer. Preoperative electromyographic studies showed that he had two ulnar nerves with cross-innervation of the median nerve. Further improvements (including tendon transfer of the flexor carpi radialis) were made 16 years after the primary operation. At the age of 18 years the patient has satisfactory function of his left hand.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
2/22. Limb-body wall complex: 4 new cases illustrating the importance of examining placenta and umbilical cord.Limb-body wall complex (LBWC) is a rare, sporadic, congenital defect defined as a combination of at least two of three characteristics: 1. limb defects, 2. anterior body wall defects, and 3. exencephaly or encephalocoele with/without facial clefts. Three pathogenic mechanisms have been proposed: early amnion rupture, vascular disruption and embryonic dysgenesis. In this study we carried out the pathological evaluation of four fetuses with LBWC and their placentas. None of the cases had craniofacial defects. Three fetuses showed an abdominal wall defect with eventration of abdominal organs, cloacal exstrophy, absent external genitalia, abnormal internal genitalia, scoliosis and lower limb defects. One fetus showed failure of closure of both thoracic and abdominal walls with ectopia cordis, evisceration of left lung and abdominal organs, severe reduction defect of left arm, but normal colon, anus, bladder, genitalia and lower limbs. All cases had a short, malformed umbilical cord, incompletely covered by amnion. The umbilical vessels were embedded in an amniotic sheet which connected the skin margin of the anterior body wall defect to the placenta. These anomalies suggest an abnormal body stalk development as a pathogenic mechanism for LBWC. Prenatally, the abnormal fetoplacental attachment can be detected ultrasonographically by the end of the first gestational trimester. Postnatally, the examination of placenta, umbilical cord and membranes is crucial in confirming the diagnosis of LBWC.- - - - - - - - - - ranking = 0.73004098312422keywords = organ (Clic here for more details about this article) |
3/22. Combined limb deficiencies and cranial nerve dysfunction: report of six cases.Six cases have been presented with combined limb deficiencies and cranial nerve dysfunctions. The major features are congenital disarticulation and congenital amputation associated with various orofacial deficits. Anatomic variations in limb and facial anomalies in these cases, as well as in other cases previously reported; seem to indicate that they are part of a single dysmorphic syndrome rather than a group of distinct clinical syndromes as reported in the past.- - - - - - - - - - ranking = 2.5keywords = nerve (Clic here for more details about this article) |
4/22. Anaesthetic implications of the child with Robinow syndrome.Robinow syndrome, originally described in 1969, consists of mesomelic brachymelia, short stature, genital hypoplasia and characteristic facies. Associated organ system involvement may include developmental delay, congenital heart disease, obstructive disorders of the urinary tract and renal cysts. As there is a potential for airway problems related to the facial features, such as midface hypoplasia and micrognathia, perioperative management of these patients is important. The authors present an 8-year-old boy, previously diagnosed with Robinow syndrome, who was admitted for an emergency surgical procedure. The perioperative implications of this disorder are reviewed.- - - - - - - - - - ranking = 0.36502049156211keywords = organ (Clic here for more details about this article) |
5/22. Hypnotherapy for reflex sympathetic dystrophy.reflex sympathetic dystrophy (RSD) is an unusual, debilitating, chronic pain syndrome thought to be the result of a continuous excessive discharge of regional sympathetic nerves. Supportive and stress-reduction psychotherapies are commonly recommended as adjunctive treatments. Biofeedback is a more direct symptomatic treatment. Although hypnotherapy is effective in altering sympathetic reflex and pain responses, there are no reports of its use for the treatment of RSD. This article reviews some promising results of hypnotherapy with three RSD sufferers. I discuss the role of hypnotherapy as a supportive adjunct to medical treatment. I also explore the possible role of hypnotherapy as a complementary treatment.- - - - - - - - - - ranking = 0.5keywords = nerve (Clic here for more details about this article) |
6/22. Limb body wall complex.A case of Limb body wall complex is reported in a preterm, Low birth weight and stillborn neonate. The proposita had abdominal wall defect with evisceration of the organs into an amnio-peritonial sac, a short body stalk, torsion of spine with scoliosis and limb defects. Unusual associations present in this case were absent thymus, interstitial calcification in kidney and a history of exposure to birth control pills during first two months post-conception.- - - - - - - - - - ranking = 0.36502049156211keywords = organ (Clic here for more details about this article) |
7/22. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.Ca(V)1.2, the cardiac L-type calcium channel, is important for excitation and contraction of the heart. Its role in other tissues is unclear. Here we present Timothy syndrome, a novel disorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities, and autism. In every case, Timothy syndrome results from the identical, de novo Ca(V)1.2 missense mutation G406R. Ca(V)1.2 is expressed in all affected tissues. Functional expression reveals that G406R produces maintained inward Ca(2 ) currents by causing nearly complete loss of voltage-dependent channel inactivation. This likely induces intracellular Ca(2 ) overload in multiple cell types. In the heart, prolonged Ca(2 ) current delays cardiomyocyte repolarization and increases risk of arrhythmia, the ultimate cause of death in this disorder. These discoveries establish the importance of Ca(V)1.2 in human physiology and development and implicate Ca(2 ) signaling in autism.- - - - - - - - - - ranking = 0.36502049156211keywords = organ (Clic here for more details about this article) |
8/22. A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al-Awadi/Raas-Rothschild syndrome?We report on a 3-year-old Thai boy with limb, pelvic, and genital malformations. The combination of findings found in this patient is similar to that of Al-Awadi/Raas-Rothchild syndrome (AARRS) or limb/pelvis hypoplasia/aplasia syndrome. The upper limbs are more severely affected than the lower ones. Unlike that of AARRS, the radial ray is more severely affected than the ulnar ray. The presence of humeroulnar synostosis and humero-ulnar-radial synostosis and the absence of a radius distinguishes it from AARRS. The similarities and dissimilarities between the features in the present patient and other limb-pelvic hypoplasia/aplasia syndromes are discussed. The findings in this group of patients appear to demonstrate limb-pelvis-genital organ developmental field defects.- - - - - - - - - - ranking = 1.8251024578106keywords = organ (Clic here for more details about this article) |
9/22. Early fetal akinesia deformation sequence: a case report with unusual autoptic features.In this paper we report a case of early onset fetal akinesia, with unusual pathological findings. This is a product of medical abortion of young, healthy, unrelated parents. The mother's obstetrical history revealed two previous early miscarriages and a suspicion of FADS in the second previous gestation. At 17 weeks of gestation, an ultrasound examination disclosed absence of fetal movements, fixed extended knees and deformation of the feet. amniocentesis showed a normal 46, XX karyotype. hydrops fetalis and multiple skin webs (pterygia), which are usually present in cases of early fetal akinesia, were absent. A diagnosis of arthrogryposis was made and the pregnancy was terminated at 17 weeks of gestation. Postmortem examination was performed according to the necropsy technique suggested by Langley. Thus, body weight and external measurement, including crown-rump, crown-heel, foot lengths, head, thorax and abdominal circumferences were estimated and compared with standard values for assessment of fetal growth. External dysmorphic features were evaluated prior to the evisceration. On internal examination the location and shape of every organ was evaluated. Every organ, skin, muscles from different parts of the body, the brain and spinal cord were sampled and histologically examined. External examination revealed a female fetus with marked muscular hypoplasia of upper and lower extremities with thin arms and legs and multiple joint contractures of lower extremities. The face showed a flattened nose, micrognatia, hypertelorism, cleft palate and low-set ears. There was also a small nuchal fold. The abdomen was distended with a very thin and almost transparent wall. Histologically, muscles were characterized by severe fibrosis with fatty infiltration and by moderate variability in diameter of muscle fibers. The spinal cord disclosed a paucity of anterior horn motor neurons. We suggest multiple pterygium as a diagnosis. Lethal multiple pterygium syndrome (LMPS) is only a symptom and the precise diagnosis is more likely to be spinal atrophy. We, moreover believe that the paucity of spinal motoneurons could be due to the anomalies of programmed death during fetal development and the consequence of genetic defects.- - - - - - - - - - ranking = 0.73004098312422keywords = organ (Clic here for more details about this article) |
10/22. Limb body wall malformation complex: an embryologic etiology?Four human fetuses with the limb body wall malformation complex, also known as the amniotic band syndrome, were examined. Besides malformations of the body wall and the limb(s), anomalies of the internal organs were found in three fetuses, suggesting a disturbance of normal morphogenesis before the fifth week of development. When analyzing the observed data in relation to their etiology, no support was found for either the amniotic band or the vascular disruption theory. New insights into morphogenesis suggest that the limb body wall malformation complex results from a malfunction in the ectodermal placodes and that it can be considered to be an embryonic dysplasia.- - - - - - - - - - ranking = 0.36502049156211keywords = organ (Clic here for more details about this article) |
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