1/31. Spondylocarpotarsal synostosis syndrome and cervical instability.Spondylocarpotarsal synostosis syndrome is a recently delineated autosomal recessive condition comprising short stature with short trunk, failure of normal spine segmentation resulting in block vertebrae and fusion of posterior elements, carpal and/or tarsal coalition, scoliosis, lordosis, pes planus, dental enamel hypoplasia, decreased range of motion or dislocation of the elbow, renal anomalies, and hearing loss. The vertebral segmentation defects may involve noncontiguous areas of the cervical, thoracic, and lumbar spine. Odontoid hypoplasia was noted in two cases. We report on a sporadic case of spondylocarpotarsal synostosis in a 5-year-old girl with hypoplasia of C1 and odontoid and subluxation of C2 upon C3. This brings the number of well-documented cases of spondylocar- potarsal synostosis to 19, and is the first documenting cervical spine instability. Careful evaluation for this complication should be considered in other cases.- - - - - - - - - - ranking = 1keywords = motion (Clic here for more details about this article) |
2/31. A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6 (p11.2q15).This report describes a nearly 25-year-old female with an interstitial deletion of band 14 in the long arm of one chromosome 6 (6q14). The deletion is contained within a de novo pericentric inversion with breakpoints in 6p11.2 and 6q15 (karyotype 46,XX, del(6)(q13q15),inv(6)(p11.2q15). The distal breakpoint of the deletion and the pericentric inversion at 6q15 are the same, but the proximal breakpoints differ. Since cells with other chromosomal findings were not detected in cultured lymphocytes and fibroblasts, chromosome mosaicism seems unlikely. Thus, it is assumed that the inversion and the deletion originated from the same event. The development of a distinctive phenotype in the patient was observed over a period of 22 years. It includes characteristic dysmorphic facial features such as ocular hypertelorism, flat nasal bridge, prominent zygomatic bones, and a depressed glabella. A striking, non-progressive deficit of motor control is manifest in an inability to use her hands properly and a broad-based slow-motion-like gait. Although severely deficient in abstract mental abilities and speech development, she is well adapted to family life and to a school for retarded individuals. Normal height and head circumference, and reduced sensitivity to pain are noteworthy. Presumably the deletion caused the phenotype and the distinct behavioral pattern. This patient probably represents a novel chromosomal phenotype that results from aggregate haploinsufficiency of gene loci in the deleted region.- - - - - - - - - - ranking = 1keywords = motion (Clic here for more details about this article) |
3/31. VATER association: is it recognised by rheumatologists?The authors describe an adult patient with history of chronic low back pain and recurrent prostatitis, marked limitation of lumbar spine motion and a radiograph demonstrating fused lumbar vertebrae, which suggest a diagnosis of spondylarthropathy. However, the absence of radiographic evidence of sacroilitis, the nature of the vertebral defects and a history of imperforate anus pointed towards the diagnosis of VATER association, rather than a spondylarthropathy. Although most patients with VATER association are diagnosed during infancy, the musculoskeletal anomalies can be overlooked while the potentially life-threatening problems are under treatment. These anomalies may become evident later in life. Therefore, in a rheumatologic practice, when evaluating patients with back pain and vertebral anomalies, one should become familiar with the varied manifestations of VATER association.- - - - - - - - - - ranking = 1keywords = motion (Clic here for more details about this article) |
4/31. Detoxifying death in the neonate: in search of meaningfulness at the end of life.At the end of life, when curative measures have failed to conquer the terminal nature of a disease, it is imperative to introduce healing measures that deal with the human suffering associated with illness. When dealing with critically ill neonates with lethal conditions, it may be necessary to institute healing measures at the beginning of life. In such cases, healing measures must incorporate customary palliative measures but should not be limited to them. The purpose of this paper is to describe two families' approaches to palliation at the end of life in their newborn infants with trisomy 18, a genetic abnormality usually associated with a markedly decreased life expectancy. We shall consider the concepts of interference versus intervention as we examine subtle medical differences between the two cases. We will address medical, legal, and ethical issues in each case, but special attention will be given to the provision of compassionate care. People face physical, mental, emotional, and spiritual challenges as they go through life. The families' approaches with their infants at the end of their lives may support the premise that the latter two challenges, emotional and spiritual, confront us the most at the end. Encouraging families to engage with their dying infants helps detoxify the experience and make it more meaningful.- - - - - - - - - - ranking = 2keywords = motion (Clic here for more details about this article) |
5/31. VATER association.Baby S began oral feedings on day 8 at 20 ml/kg/day. The infant reached full enteral feedings on day 11 and was subsequently advanced to an ad lib demand schedule. The broviac catheter was removed on day 13. An orthopedic surgeon was consulted to evaluate abnormalities of the upper extremities and hip laxity noted on admission examination. The orthopedic specialist found decreased abduction of the hips bilaterally with no instability and normal range of motion on exam. An ultrasound showed bilateral posterior subluxation with no frank dislocation. The infant was evaluated by a physical therapist and received daily splinting and stretching of the upper extremities, with continued evaluation planned following discharge. When the infant was discharged on day 15, she was breastfeeding on a demand schedule with bottle supplementation and continued to receive ranitidine and metoclopramide. Follow-up was scheduled with the cardiologist, the orthopedic surgeon, and the family physician.- - - - - - - - - - ranking = 1keywords = motion (Clic here for more details about this article) |
6/31. Surgical correction of trismus in a child with Hecht syndrome.Hecht syndrome is a rare condition that is also known as trismus pseudocamptodactyly syndrome. Short muscle and tendon units limiting the range of motion of upper and lower extremities and mouth characterize this disorder of muscle development. There is no consensus on the optimal treatment of temporomandibular joint (TMJ) ankylosis in this patient population. Endoscopic release in one patient resulted in early postoperative recurrence. The authors present a 28-month old boy who had a limited mouth opening of 6 mm. CT scan showed no bony ankylosis. The range of mouth opening did not to improve with physical therapy. The patient underwent extensive subperiosteal dissection of the mandible, bilateral coronoidectomy, and TMJ exploration. An intraoperative opening of 18 mm was achieved. The patient remained intubated until postoperative swelling resolved. He was extubated in the operating room 6 days later. The patient continued to improve with physical therapy. He had a 25-mm mouth opening at 12 months of follow-up.- - - - - - - - - - ranking = 1keywords = motion (Clic here for more details about this article) |
7/31. A case of familial popliteal pterygium syndrome: early surgical intervention for successful treatment.A 2-year-old boy presented at our hospital with severe familial popliteal pterygium syndrome with extensive skin webbing from thigh to heel and severely reduced range of motion of the knee and ankle joints. For accomplishment of knee extension, the patient underwent surgery with resection of the fibrous bands, freeing of the sciatic nerve, Z-lengthening of the achilles tendon and multiple Z-plasties. One year after surgery, the patient can put his heel on the ground and has almost complete range of motion in the knee and ankle joints.- - - - - - - - - - ranking = 2keywords = motion (Clic here for more details about this article) |
8/31. noonan syndrome associated with anomalous coronary artery and other cardiac defects.This case-report describes an 11-month-old infant, who had been diagnosed with noonan syndrome with a variety of associated anomalies. Multiple cardiac anomalies were present, consisting of dysplastic pulmonary valve, symmetric biventricular hypertrophy, atrial septal defect and right ventricular outflow tract (RVOT) obstruction, in which the pressure gradient measured 73 mmHg, and anomalous coronary artery. Systolic anterior motion of the mitral valve (SAM) was present, without remarkable clinical significance. RVOT transannular repair with non-cusped xenograft along with resection of hypertrophied right ventricular outflow myocardium. Left ventricular outflow tract (LVOT), which had no clinical sign of obstruction, was left untouched, expecting the RVOT repair also effectively release LVOT dynamic obstruction. The postoperative echocardiography revealed residual SAM without significant pressure gradient through LVOT.- - - - - - - - - - ranking = 1keywords = motion (Clic here for more details about this article) |
9/31. Alexithymia in noonan syndrome.Although noonan syndrome is quite prevalent, there is a general paucity in the description of psychological and psychiatric aspects. In the present paper a 19-year-old female patient with noonan syndrome is described who presented with anxiety symptoms. mutation analysis in PTPN11, the NS1 gene on chromosome 12q24, showed no abnormalities. A diagnosis of panic disorder without agoraphobia was established. Treatment with citalopram resulted in a gradual decline of anxiety symptoms. The psychological profile was characterized by a prominent alexithymia. The main conclusion is that patients with noonan syndrome might have deficits in emotional adaptative functions. It is hypothesized that alexithymia is a key feature of the behavioural phenotype.- - - - - - - - - - ranking = 1keywords = motion (Clic here for more details about this article) |
10/31. Camptomelic dysplasia with sex reversal.Camptomelic dysplasia is a disorder of the newborn characterized by congenital bowing and angulation of long bones together with other skeletal and extraskeletal defects. The affected newborn had dysmorphic features with bowing of the legs and bilateral talipes equinovarus. radiology showed marked anterior bowing of both tibia with disproportionately short fibula, anterolateral bowing of the femurs and wide pelvic outlet with small iliac wings. She had sex reversal with normal female genitalia and 46, XY karyotype. Camptomelic dysplasia is generally considered to be a lethal skeletal dysplasia and most patients die in the neonatal period due to severe respiratory distress. survivors may have learning difficulties, developmental delay, conductive hearing loss, myopia and recurrent chest infections. Because of its high associated mortality, prenatal diagnosis of camptomelic dysplasia is mandatory. The birth of a child with skeletal dysplasia is an emotionally difficult experience for parents.- - - - - - - - - - ranking = 1keywords = motion (Clic here for more details about this article) |
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