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[Recessive autosomal inheritance in Marfan syndrome].

Three brothers 9, 12, and 14 years of age were studied. The three of them fulfilled the diagnostic criteria of Marfan Syndrome that was made based on physical and ophthalmologic examination, these criteria included musculoskeletal abnormalities, subluxation of lens, myopia and aortic aneurysm. The three siblings died due to complications of the aortic aneurysm, which had an early onset as well as the other clinical manifestations of the disease. They were 2 brothers and one sister. There was neither mental or psychomotor retardation, nor metabolic disease in any of the patients. Family history did not show any clinical manifestation of the disease in parents or grandparents. We propose that the hereditary pattern is recessive autosomic instead of dominant autosomic given the features of these cases and their history.

Child↗
PubMed2004

Acquired fanconi syndrome induced by mixed Chinese herbs presenting as proximal muscle weakness.

We report a rare case with acquired Fanconi syndrome caused by mixed Chinese herbs, initially presenting as waddling gait and lower limb muscle atrophy. From a series of investigations, proximal renal tubule injury with functional defects and Chinese herb nephropathy were discovered. Hypophosphatemic osteomalacia and type II muscle fiber atrophy shown in muscle biopsy of left quadriceps may be associated with the sequelae of ingestion of mixed crude Chinese herbs. Aggressive and early alkali treatment with supplementation of phosphate and Vitamin D restored the patient's metabolic and musculoskeletal abnormalities.

Adult↗
PubMed2005

The evolution of sagittal segmental alignment of the spine during childhood.

STUDY DESIGN: Cross-sectional. OBJECTIVES: The purpose of this study is to describe the normative data of the sagittal plane on pediatric age population, and to document the evolution of sagittal alignment with growth. SUMMARY OF BACKGROUND DATA: Having normative data about the sagittal plane is an integral part in the planning of the three-dimensional reconstruction of the spine. Segmental sagittal plane analysis on adults has been studied thoroughly; however, there are inadequate data on children. METHODS: A total of 151 children (72 girls, 79 boys) without musculoskeletal abnormality between the ages of 3 to 15 years were studied with the 36-inch standing lateral radiograph with the arms flexed at 30 degrees . There were a minimum of 10 children, at least 4 of them from one sex, in each age group. Variables measured on the radiograms were as follows: segmental angulations from T1-T2 to L5-S1, angles of global kyphosis (T1-T12) and lordosis (L1-S1), segmental angulations of T2-T5, T10-T12, T10-L2, and L4-S1 levels, T1 and L1 offsets in millimeters, location of thoracic and lumbar apexes, and spinopelvic alignment measurements (angles of alpha and beta, sagittal vertebral axis, and sacropelvic translation). For statistical analysis, the children were grouped in terms of ages: Group I (3-6 years of age), Group II (7-9 years of age), Group III (10-12 years of age), and Group IV (13-15 years of age). RESULTS: One-way analysis of variance showed significant differences between the following parameters among groups: segmental angulations of T1-T2 (P = 0.015), T10-L2 (P = 0.014), L4-S1 (P = 0.001), global kyphosis angle (P = 0.005), global lordosis angle (P = 0.000), thoracic apex (P = 0.007), T1 offset (P = 0.000), sagittal vertebral axis (P = 0.004), and beta angle (P = 0.000). As sagittal vertebral axis increases, there is found to be a higher L1 offset and lower thoracic apex, both of which result in leaning forward. With growing, total thoracic kyphosis and total lumbar lordosis particularly due to lower 2 motion segments were found to be increased, while thoracic apex moved upwards, T1 offset increased, and L1 offset decreased. Older children stood with a more negative SVA, and sacral inclination increased. CONCLUSION: Sagittal spinal alignment is found to be changing as a child grows. There is a statistically significant difference among different age groups, especially at cervicothoracic, thoracolumbar, and lumbosacral junctions. The position of the sacrum (inclination and translation), and spatial orientation, as well as the global magnitude of thoracic kyphosis, and lumbar lordosis changes with growth. These findings should be taken into consideration for the young patients who require spinal instrumentation. The question "whether sagittal alignment should be restored according to the normative data for the child's age or to the normative data for the adulthood" remains to be answered.

Adolescent↗
PubMed1992

The orthopaedic manifestations of the Langer-Giedion syndrome.

Less than 50 cases of Langer-Giedion syndrome (also known as trichorhinophalangeal syndrome with exostoses) have been reported in the English literature since its first description in 1974. Affected individuals have been described as having a bulbous nose, micrognathia, short stature, multiple cartilaginous exostoses, and large, protruding ears. We recently treated a 5-year-old, mentally retarded boy with Langer-Giedion syndrome for symptomatic multiple exostoses involving his proximal tibia and distal femur. This paper will highlight the musculoskeletal abnormalities found in this child and compare them to those of 43 patients reported in the world literature. The comparison reveals a very distinctive pattern of exostosis, demonstrating a primary altered growth pattern in the lower extremities and deformity secondary to marked ligamentous laxity. Orthopaedic surgeons are frequently the first consultants to see these children for their obvious osteochondromata. They must consider the diagnosis of Langer-Giedion syndrome to facilitate the treatment of its other manifestations.

Child↗
PubMed1992

Metastatic granulosa cell tumor in a mare.

A 5-year-old Quarter Horse mare was referred for evaluation of an acute non-weightbearing lameness of the left hind limb in which musculoskeletal abnormalities had not been detected. After admission, the mare had signs of colic. Exploratory laparotomy revealed the left ovary to be large, masses in the left sublumbar space, and diffuse infiltration of the mesentery, omentum, liver, and spleen with variably-sized masses. The mare was euthanatized, and granulosa cell tumor was identified on histologic examination of the left ovary, left sublumbar and cranial thoracic lymph nodes, omentum, mesentery, liver, spleen, and lung.

Animals↗
PubMed2006

[Noncardiac chest pain and gastroesophageal reflux in children].

OBJECTIVE: To investigate the relationship between noncardiac chest pain (NCCP) and gastroesophageal reflux (GER) in children and to assess the diagnostic value of esophageal pH monitoring in patients with NCCP. METHODS: Ambulatory 24 h esophageal pH monitoring was performed in 36 NCCP cases (patient group) with recurrent chest pain and without respiratory diseases and musculoskeletal abnormalities in chest, and 20 of them underwent gastric endoscopy. Eleven of the 20 cases were found to have esophagitis (esophagitis group), while the other 9 cases showed no signs of esophagitis (non-esophagitis group) according to the diagnostic criteria of esophagitis. RESULTS: The episode of esophageal pH < 4, the number of reflux longer than 5 min, the longest reflux time, the percent time of pH < 4 and Boix-Ochoa score in the patient group were 60 +/- 7, 2.44 +/- 0.74, (12.4 +/- 2.8) min, 6.72 +/- 1.39, 24.6 +/- 3.9, respectively, as compared to 33 +/- 4, 0.35 +/- 0.11, (4.3 +/- 0.9) min, 1.25 +/- 0.19, 7.7 +/- 0.9 in the control group. The difference between the two groups had reached significance (t = 3.44, 2.79, 2.73, 3.89, 4.24, respectively, all P < 0.01). The positive rate of acid reflux in the patient group was 58.3% (21/36) whose Boix-Ochoa score higher than 11.99. Eleven of the 20 cases (55.0%) receiving endoscopy were found to have esophagitis, among them the positive rate of GER occurred 81.8% (9/11). Whereas, the other 9 cases (45.0%, 9/20) showed non-esophagitis and the positive rate of GER showed 33.3% (3/9). The number of reflux longer than 5 min and the percent time of pH < 4 in the esophagitis group were 5.8 +/- 2.0, 12.5 +/- 3.5, respectively, as compared to 0.9 +/- 0.5, 3.4 +/- 1.4 in the non-esophagitis group. Significant difference were observed between the two groups (Z = -2.400, -2.545, respectively, all P < 0.05). The episode of esophageal pH < 4, the longest reflux time, and Boix-Ochoa score in the esophagitis group were 73 +/- 11, (26.4 +/- 7.3) min, 41 +/- 10, respectively, as compared to 34 +/- 11, (4 +/- 3) min, 14 +/- 5 in the non-esophagitis group. The difference between the two groups showed significance (Z = -2.926, -2.675, -2.584, respectively, all P < 0.01). CONCLUSIONS: GER is very common in children with NCCP. Esophageal pH monitoring has a therapeutic predictive value in addition to its diagnostic merit for NCCP in children.

Adolescent↗
PubMed1991

Digital imaging and picture archiving and communication systems.

Great progress has been made in digital imaging of the chest. Most studies are dealing with computed radiography. Chest radiography in the intensive care unit may, in most cases, be performed using computed radiography. However, subtle pulmonary interstitial disease can be demonstrated less confidently using computed radiography. Significantly better detection of calcified lung nodules can be obtained by using simplified single-exposure dual-energy technique that uses storage phosphor. The wide latitude of computed radiography permits images of high quality in areas other than chest radiography. Encouraging results are presented especially in the diagnostic evaluation of scoliosis and other musculoskeletal abnormalities. An important technical innovation in digital radiography is an improved method for single-exposure dual-energy digital imaging using prefiltration with gadolinium, a cassette consisting of four photostimulable phosphor plates, spatially dependent scatter and beam hardening corrections, and noise reduction algorithm. Other groups tested algorithms for enhancement of digital images that allowed significant data compression. The implementation of picture archiving and communication systems (PACS) is inevitable; the question concerning PACS implementation is not why, but when. A comparison of the cost-effectiveness of PACS with conventional film archiving and communication systems shows that PACS should provide indirect savings when regarding the hidden costs of conventional systems. Much more experience will be needed before there is general agreement on the best design for the radiologist's workstation. Teleradiology should contribute to radiologic consultation for remote locations, because it improves the efficacy of management of patients in such locations.

Child↗
PubMed1987

Enteropathic arthropathies.

Musculoskeletal disease occurs in association with inflammatory bowel disorders including Crohn's disease and ulcerative colitis, as well as with Whipple's disease; with enteritis caused by Salmonella, Shigella, and Yersinia; and also following intestinal bypass surgery. Extraintestinal causes of musculoskeletal alterations include Laennec's and biliary cirrhosis and pancreatitis. Three types of musculoskeletal abnormalities are recognized in patients with inflammatory bowel diseases: peripheral joint arthritis, sacroiliitis and spondylitis identical to ankylosing spondylitis, and rarely, miscellaneous changes such as digital clubbing and hypertrophic osteoarthropathy.

Arthritis, Infectious↗