General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation.
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Adult↗
Biomedical subjects
P F Dijkstra
Publications and source records attributed to P F Dijkstra.
Metacarpophalangeal pattern profile analysis in Sotos and Marfan syndrome.
Patients with Sotos and Marfan syndrome have unusually long metacarpals and phalanges which may make the differential diagnosis difficult in younger children. Using Q-scores, we compared metacarpophalangeal pattern profile (MCPP) analysis in these two syndromes and identified distinct and different pattern profiles. This illustrates that the MCPPs are specific in these syndromes, even at an early age, and not related solely to the unusually long metacarpals and phalanges. For this study we used data from 50 Sotos patients (34 from the United Kingdom and 16 from the Netherlands, with a total of 95 hand films) and 36 Marfan patients (from the Netherlands, with 98 hand films). Of all patients over age 3 years the bone length (including the epiphysis) was determined. The patients under 7 1/2 years (29 Sotos and 12 Marfan) were also measured without inclusion of the epiphysis. The patients measured without epiphysis had a relative short metacarpal 1 (MC1) and long distal phalanx 1 (DPh1) in Sotos syndrome, and a relative long MC1 and short DPh1 in Marfan syndrome. Between age 3 and 7 1/2 years more than 90% of the films could be classified correctly using these two variables. Of the roentgenograms measured with epiphyses, about 80% were classified correctly.
Adolescent↗
Significance of a hot spot on the bone scan after carpal injury--evaluation by computed tomography.
The use of bone scintigraphy in patients with negative radiographs after carpal injury is widely advocated. However, focally increased activity on the bone scan in the scaphoid or other carpal bones cannot always be radiologically confirmed as a fracture. To confirm scintigraphically suspected carpal fractures, computed tomography (CT) of the wrist was performed in patients with clinically suspected scaphoid fracture and initially negative radiographs. All patients underwent plain radiography, bone scintigraphy and CT. The combination of plain radiographs and CT, as judged by a panel of experienced observers, was used as the reference standard. In 18 patients, 21 out of 22 carpal hot spots on bone scintigraphy could be radiologically confirmed as a fracture. The diagnosis was missed by CT scan in three patients with proven fractures on plain radiographs. We conclude that, in patients with negative initial radiographs following carpal injury, a positive bone scan must be interpreted as a fracture.
Adult↗
Carpal instability, the missed diagnosis in patients with clinically suspected scaphoid fracture.
To determine the incidence of carpal instability and its relation to clinical findings in patients with suspected scaphoid fracture, we performed a long-term follow-up investigation in a consecutive series of 160 patients who were treated in our department of traumatology for suspected scaphoid fracture after a fall on the outstretched hand. Radiography of the carpus was obtained. Bone scintigraphy was performed in all patients with negative initial radiographs. Follow-up investigation was performed in 100 patients and consisted of history, clinical examination, including measurement of grip strength and wrist movement, synovia stress test, Watson's scaphoid test, and radiographic examination. In 22 patients, clinical or radiological signs of carpal instability were found. The incidence of complaints and a positive synovia test were significantly higher in patients with suspected carpal instability. The bone scan was not useful for the detection or exclusion of carpal instability. The three-phase bone scan gave no additional information in the diagnosis of carpal instability.
Accidental Falls↗
Gadolinium-DTPA enhanced magnetic resonance imaging of bone cysts in patients with rheumatoid arthritis.
OBJECTIVES: To examine the contents of intraosseous cysts in patients with rheumatoid arthritis (RA) through the signal intensity characteristics on gadolinium-DTPA (Gd-DTPA) enhanced magnetic resonance imaging. METHODS: The hand or foot joints of nine patients with the cystic form of RA (where the initial radiological abnormality consisted of intraosseous cysts without erosions) were imaged before and after intravenous administration of Gd-DTPA. A 0.6 unit, T1 weighted spin echo and T2* weighted gradient echo were used to obtain images in at least two perpendicular planes. RESULTS: Most cysts showed a low signal intensity on the non-enhanced T1 weighted (spin echo) images and a high signal intensity on the T2* weighted (gradient echo) images, consistent with a fluid content. No cyst showed an enhancement of signal intensity on the T1 weighted images after intravenous administration of Gd-DTPA, whereas synovium hyperplasia at the site of bony erosions did show an increased signal intensity after Gd-DTPA. Magnetic resonance imaging detected more cysts (as small as 2 mm) than plain films, and the cysts were located truly intraosseously. In six patients no other joint abnormalities were identified by magnetic resonance imaging; the three other patients also showed, after Gd-DTPA administration, an enhanced synovium at the site of bony erosions. CONCLUSIONS: It is suggested that intraosseous bone cysts in patients with RA do not contain hyperaemic synovial proliferation. The bone cysts in patients with the cystic form of RA may be the only joint abnormality.
Adult↗
Some variants of lethal neonatal short-limbed platyspondylic dysplasia: a radiological ultrasonographic, neuropathological and histopathological study of 22 cases.
Data on twenty-two infants with lethal neonatal short-limbed platyspondylic dysplasia are reported. Thanatophoric dysplasia (TD) is the most frequent diagnosis in this group. TD combined with a cloverleaf skull (CS), has been variably classified. TD type 1 with curved femora is rarely combined with CS; TD type 2 with straight femora is almost always associated with CS. Other varieties of TD, known as 'Torrance', 'San Diego' or 'Luton' types, are separate entities. Apart from the differences in radiography and osteochondrohistology, the temporal-lobe abnormalities seen in TD were absent in one of the cases of the 'Torrance' variety. There were also differences in the composition of the cartilage glycosaminoglycans between this case and TD. Nearly all of the cases of these different types mentioned in the literature, including those of this study group, have been sporadic and may result from new dominant mutations. Documentation and classification by full (postmortem) radiography and osteochondrohistology is essential for two reasons. It will be the foundation for the clinical geneticist to inform the parents about the risk of recurrence. It will also be the basis for a biochemical or molecular-biological classification in the near future.
Brain↗
Metacarpophalangeal pattern profiles: Q-score for ages 3 years to adult with epiphyses: an update.
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Adolescent↗
Radiography of the carpal scaphoid. Experimental evaluation of "the carpal box" and first clinical results.
RATIONALE AND OBJECTIVES: The authors describe a new device ("the carpal box") for the radiographic detection of occult scaphoid fracture. METHODS: Fractures in the scaphoid of five cadaver specimens were mechanically produced. Subsequent examinations included conventional scaphoid radiography, multi-angle radiography, and radiography using the new device. The anatomic analysis of the specimens served as the standard for comparison. A pilot study was performed in six consecutive patients with suspected scaphoid fracture. RESULTS: Neither scaphoid radiography nor multi-angle radiography could confirm a fracture in two specimens, whereas all fractures were recognized on the carpal box radiographs. All scaphoid fractures were visualized by carpal box radiography, whereas scaphoid radiography was equivocal in one patient and negative in the other. CONCLUSIONS: Carpal box radiography may have additional value in the diagnosis of occult scaphoid fracture. This may lead to a reduction in costs and inconvenience for patients with clinically suspected scaphoid fracture and negative scaphoid radiography.
Carpal Bones↗
MCA/MR syndrome in two female siblings: new entity or variant examples of Coffin-Lowry versus Atkin-Flaitz syndromes?
We report two sisters with mental retardation, coarse facial features, telecanthus, flat malar region, prominent lower lip, kyphoscoliosis, and tapering fingers. Although these patients' phenotypes showed considerable overlap with the Coffin-Lowry and the Atkin-Flaitz syndromes, their overall picture makes these diagnoses controversial.
Abnormalities, Multiple↗
Metacarpophalangeal pattern profiles: Q-score for ages from birth to 7 years.
The metacarpophalangeal pattern profile (MCPP) analysis is a widely used method of standardization of bone length measurements to quantify congenital skeletal dysplasia of the hands. A main source of inaccuracy is the prominent scatter in the values of the standard deviation (S.D.) of the reference length, which is used in the calculation of the standardized values (Z-scores). Other sources of error, especially when bone length measurements of younger children are evaluated, are the rather large variability in the age of appearance of the epiphyses of the different bones, and the use of tabulated reference data which are available only at one-year intervals. We have devised another method of standardization of bone length measurements, by calculating the Q-score. Its advantages are that no S.D. values are needed and that more accurate results are obtained. Moreover the interpretation of the Q-scores is more straightforward than the interpretation of the Z-scores. Q-scores for 3 patients with Sotos syndrome are presented. Use of the MCPP in the form of the Q-score, will probably make it an even stronger tool than before.
Bone Development↗
Metacarpophalangeal pattern profile analysis in Rubinstein-Taybi syndrome.
Metacarpophalangeal pattern profile (MCPP) was determined in 49 radiographs of 40 patients with Rubinstein-Taybi syndrome. Two recognizable hand profiles were seen, depending on the configuration of the thumb and on age. Patients with a straight thumb showed a short first proximal phalanx, and short third medial phalanx. Patients with a radially deviated thumb had a short first proximal phalanx. Depending on age, a relatively large (infancy) or markedly short (older patients) first distal phalanx was found. The similarity between the patients was high. A third group of patients did not show a particular hand profile, but only small hand bones. The pattern variability indices were high in all groups of patients. MCPP analysis in Rubinstein-Taybi syndrome seems to be a powerful, but not pathognomonic, diagnostic tool.
Abnormalities, Multiple↗
The prenatal development of the normal human skeleton: a combined ultrasonographic and post-mortem radiographic study.
Post-mortem radiography of fetuses with skeletal dysplasia is essential for diagnostic classification. Interpretation of the radiographs should be based on the knowledge of morphology and dimensions of the normal skeleton in all stages of development. A retrospective post-mortem radiographic study is presented with measurements of the lengths of the long bones and thoracic and lumbar spine. The study included 69 fetuses and neonates with a normal skeleton, whose gestational age ranged from 13-42 weeks and who died perinatally or lived for less than one week. The measurements of the long bones were plotted on growth curves obtained from a prospective longitudinal ultrasonographic investigation of another group of 63 normal fetuses from 12-40 weeks of gestation. Thoracic and lumbar spine measurements by ultrasonography were not available. The radiographic data of thoracic and lumbar spine were, therefore, compared to radiographic studies from the literature. No disagreement with these studies was found. It can be concluded that measurements of bones from standardized post-mortem radiographs in cases of questionable gestational age or defects of bone development can be compared with ultrasonographic measurements. To illustrate the usefulness of the graphs, 13 fetuses with various types of skeletal dysplasia were evaluated retrospectively.
Bone Diseases, Developmental↗
Cystic rheumatoid arthritis: description of a nonerosive form.
In a study of patients with rheumatoid arthritis (RA), 9% (n = 70) were found to have a cystic form. At radiologic examination of these patients with cystic RA, the first abnormality seen consisted of periarticular intraosseous cysts without erosions. The cysts were distributed symmetrically, most often located at the proximal side of the joints and predominantly around the proximal interphalangeal, metacarpophalangeal, and wrist joints of the hands and the first interphalangeal and metatarsophalangeal joints of the feet. Computed tomographic scans showed the peripheral intraosseous location of the cysts. Magnetic resonance images showed that the cysts may contain fluid, inflamed synovia, or both. Cysts can be an important feature in the diagnosis of RA and a supplement to the criteria of the American Rheumatism Association. Osteoporosis, joint-space narrowing, and joint destruction occurred less frequently in patients with cystic RA than in patients with classic RA. Of the patients with cystic RA, 54% were male, and 50% were seronegative. This study is a supplement to and an enlargement on earlier descriptions of cyst predominance in RA.
Adolescent↗
Complex motion tomography of the sacroiliac joint. An anatomical and roentgenological study.
To find a better method for diagnosing sacroiliac (SI) joint disease, an anatomical approach was combined with conventional roentgenology, complex motion tomography and computed tomography. Complex motion tomography is suggested as the method of choice in the investigation of the SI-joint. Because of its complex (sinusoidal) form, the dorsal portion of the joint has to be tomographed in frontal projection and the middle and ventral portions in oblique projection. In 56 patients, referred for probable ankylosing spondylitis, 72 SI joints were investigated. Based on plain radiography six and on frontal tomography five SI joints were diagnosed as normal. However, based on oblique tomography 31 joints were diagnosed as normal.
Female↗
Metacarpophalangeal pattern profile analysis in Sotos syndrome: a follow-up report on 34 subjects.
Metacarpophalangeal pattern profile (MCPP) was determined on 34 Sotos syndrome individuals and compared with previous MCPP studies. The mean hand profile contained a major peak in the proximal phalangeal area and a smaller peak in the metacarpal area, while the distal hand bones were relatively short. There appear to be three recognized hand profiles in Sotos syndrome, which suggests heterogeneity of the syndrome, although correlation studies indicate clinical homogeneity of individuals in the younger age groups. Discriminant analysis of Sotos syndrome versus control subjects produced a function of two MCPP variables, plus age, which may be applied as another diagnostic tool.
Abnormalities, Multiple↗
Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance.
A brother and sister with Martsolf syndrome are reported. The main characteristics of the syndrome are mental retardation, short stature, cataracts, hypogonadism and craniofacial anomalies including microcephaly, maxillary retrusion, pouting mouth, malaligned teeth and mildly dysplastic pinnae. The metacarpal and phalangeal bones are short. The occurrence of Martsolf syndrome in sibs of opposite sex suggests autosomal recessive inheritance.
Abnormalities, Multiple↗
Radiosynoviorthesis of the knee: a doubleblind trial of 1 versus 5 mCi Gold-198.
Since the minimal effective dosage for radiosynovectomy is not known, we have performed a doubleblind controlled trial of 1 mCi vs. 5 mCi 198Au in 60 knees of 46 patients with persistent rheumatoid synovitis. The therapeutic effect was assessed with a clinical score, 99mTc pertechnetate uptake measurements and plain X-rays. With regard to clinical parameters no statistical differences between the two groups were found, but results indicate a trend towards a better outcome in patients treated with 5 mCi. 99mTc uptake improved significantly in patients treated with the higher dose and not in the low dose group. Weighing ease of treatment and risk of side effects against the small difference in effectiveness, we conclude that the use of less than 5 mCi of 198Au may be justified. During the study the injection technique was changed, enabling a comparison of two methods. Leakage to lymph nodes and liver decreased when the needle was flushed with normal saline after administration of the radiocolloid.
Aged↗
Prenatal ultrasonographic diagnosis of osteogenesis imperfecta.
Between 1982 and 1986, osteogenesis imperfecta was diagnosed by ultrasound in seven fetuses. The known heterogeneity of osteogenesis imperfecta was confirmed by the prenatal ultrasonographic findings. Dependent on the type of osteogenesis imperfecta, the appearance of the limbs varied from severely shortened and broad, with very low echogeneity and absent acoustic shadow (type IIA), to only moderately shortened and thin, with almost normal echogeneity and acoustic shadow but clearly visible fractures causing angulation of the bone (types IIC and III). Ultrasonography offers the possibility to detect or exclude the lethal and severe forms of osteogenesis imperfecta early (type IIA) or halfway (types IIB, IIC, and III) through the second trimester. Prenatal diagnosis of the disease allows the option of elective abortion or may prevent unnecessary obstetric intervention.
Adult↗