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Describes the orthopedic sequelae of obstetrical brachial plexus injury in patients who had spontaneous functional recovery. Conservative methods of treatment to prevent shoulder complications; Explanation for the development of contractures and bony deformities; Changes in the methods of treatment.

In this study, we followed-up the family with bilateral hereditary micro-epiphyseal dysplasia (BHMED) originally described by Elsbach [1959: J Bone Joint Surg [Br] 41-B:514-523]. Clinical re-examination of all available family members resulted in further delineation of the clinical and radiological phenotype, which is distinct from common multiple epiphyseal dysplasia (MED). Linkage analysis excluded EDM1, EDM2, and EDM3 as candidate genes. Linkage and mutation analysis of matrilin-3 (MATN-3) revealed a new pathogenic mutation confirming that BHMED is indeed a distinct disease entity among MED and MED-like disorders., (Copyright 2003 Wiley-Liss, Inc.)

Objective: Upper extremity angiography can make an important contribution to the diagnosis in vasculopathy. The present study was designed to assess the diagnostic role of upper extremity angiography in patients with disturbed circulation of the hand, according to a standardised protocol., Methods: The study was carried out in an outpatient setting in 103 patients suffering from bilateral Raynaud's phenomenon without any obvious underlying disease and who were unresponsive to nifedipine and aspirin. All patients had angiographies taken according to a standardized technique using vasodilating medication, and reviewed according to a standardised protocol that covered all the known characteristics of angiopathy such as diminished flow, stops, tortuosity, irregularity of the wall, tapering, collaterals and blushing., Results: Standardised angiograms showed vasculopathy compatible with primary vasospasm in 42 patients [all women; mean age 35.1 years], atherosclerotic vascular disease in 44 patients [M/F 9/35; mean age 46.7 years], peripheral embolism in 8 patients [M/F 4/4; mean age 38.4 years], vasculitis in 3 patients [3 women; mean age 38 years] and Buerger's disease in 3 patients [3 men; mean age 47 years]. Inter-observer differences were present in 4 cases, but consensus could be reached through open discussion. An unexpected 47% of patients with atherosclerotic vascular disease had dyslipidemia, frequently of familial origin., Conclusions: The standardised angiography protocol proved to be helpful in the assessment of upper extremity angiography. Surprisingly, a high prevalence of angiographic abnormalities compatible with atherosclerotic vascular disease could already be diagnosed in relatively young patients with Raynaud's phenomenon, of whom 47% showed hypercholesterolemia.

Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959, is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED)., Material and Methods: We used the data of the revised pedigree with 84 family members, performed a medical history, physical examination and made a radiological evaluation for defining a clinical and radiological phenotype of BHMED family members. We used blood samples for genetic analysis., Results: Although there is a clear clinical picture of the dysplasia, the radiological signs are more reliable for making the diagnosis. Especially the typical deformity of the hip and knee joint are diagnostic for BHMED. By linkage analysis we excluded linkage with the three known MED-loci (EDM1, EDM2 and EDM3)., Conclusion: BHMED is indeed an entity that is distinct from common multiple epiphyseal dysplasia (MED), clinically, as well as radiologically and genetically.

Bilateral hereditary micro-epiphyseal dysplasia (BHMED) is a distinct skeletal dysplasia with specific clinical and radiological findings. It was first published in 1959. We have re-examined the original family for further delineation of the phenotype.

The authors designed a study to test the hypothesis that the length of the ulna might affect the shape of the lunate bone because of long-term molding during life. This might then be useful to predict the presence or absence of a dynamic or static ulna plus by the shape of the lunate bone. In a prospective study, posterior-anterior wrist x-rays were taken in a standard fashion in 68 patients with a mean age of 34.5 years. Dominance, grip strength, ulnar variance and the shape of the lunate were recorded. Lunate shape, type 1, which is the least molded, was seen most frequently on both the left and right side and did not correlate with the dominant side. The most molded, type 3, was seen less frequently and almost exclusively on the nondominant side. No correlation was found between dynamic ulna plus and the type 3 lunate. Following statistical analysis, no correlation between ulnar variance and lunate shape was found, indicating that the shape of the lunate bone had no predictive value for predicting the presence or absence of a dynamic ulna plus variance. The hypothesis that the length of the ulna might influence the ultimate shape of the lunate could not be demonstrated.

Objective: A radiological study was performed to evaluate ulnar variance in 68 Dutch patients using an electronic digitizer compared with Palmer's concentric circle method. Using the digitizer method only, the effect of different wrist positions and grip on ulnar variance was then investigated. Finally the distribution of ulnar variance in the selected patients was investigated also using the digitizer method., Design and Patients: All radiographs were performed with the wrist in a standard zero-rotation position (posteroanterior) and in supination (anteroposterior). Palmer's concentric circle method and an electronic digitizer connected to a personal computer were used to measure ulnar variance. The digitizer consists of a Plexiglas plate with an electronically activated grid beneath it. A radiograph is placed on the plate and a cursor activates a point on the grid. Three plots are marked on the radius and one plot on the most distal part of the ulnar head. The digitizer then determines the difference between a radius passing through the radius plots and the ulnar plot., Results and Conclusions: Using the concentric circle method we found an ulna plus predominance, but an ulna minus predominance when using the digitizer method. Overall the ulnar variance distribution for Palmer's method was 41.9% ulna plus, 25.7% neutral and 32.4% ulna minus variance, and for the digitizer method was 40.4% ulna plus, 1.5% neutral and 58.1% ulna minus. The percentage ulnar variance greater than 1 mm on standard radiographs increased from 23% to 58% using the digitizer, with maximum grip, clearly demonstrating the (dynamic) effect of grip on ulnar variance. This almost threefold increase was found to be a significant difference. Significant differences were found between ulnar variance when different wrist positions were compared.

Hereditary isolated brachydactyly type C (OMIM 113100) mostly follows an autosomal dominant pattern of inheritance with a marked variability in expression. This phenotype has been mapped to two different loci on chromosomes 12q24 and 20q11.2. The latter locus contains the cartilage-derived morphogenetic protein (CDMP)1 gene, in which a null mutation has been found in patients with malformations restricted to the upper limbs. A more complex brachydactyly type C phenotype has been mapped to chromosome 12q24. Differences in complexity of these phenotypes have been attributed to locus heterogeneity. Clinical subclassification based on the degree of complexity of the phenotype has therefore been suggested. We present patients with a complex brachydactyly type C phenotype in whom there is considerable intra- and interfamilial variability in expression. We show that clinical subclassification based on the complexity of the brachydactyly type C phenotype related to the genetic defect is not feasible. We present evidence that differences in complexity are not only due to locus heterogeneity, but that genetic modifiers and/or environmental factors must also play a role.

The Museum Vrolik collection of human anatomy comprises 360 recently redescribed specimens with congenital anomalies. The specimen described here dated from 1881 and presented with a general embryonic appearance, disproportionate short stature, brachycephaly, widened cranial sutures, hypertelorism, microphthalmia, bilateral cleft lip and palate, micrognathia, short and curved limbs, polysyndactyly, and abnormal female genitalia. Conventional radiography was hampered by decalcification of the skeleton, due to acidification of the preservation fluid. The use of additional imaging techniques, i.e., mammography, computerized tomography with three-dimensional reconstruction, and magnetic resonance imaging eventually led us to conclude that the condition of our specimen was similar to Piepkorn type skeletal dysplasia, boomerang dysplasia, and a condition described by Carpenter and Hunter [1982: J Med Genet 19:311-315], though none of these diagnoses seemed fully applicable.

Purpose: To assess the potential of two-point Dixon chemical shift magnetic resonance imaging to achieve uniform fat suppression in the distal parts of the extremities., Materials and Methods: Two-point Dixon chemical shift imaging was performed in 31 consecutive patients clinically suspected to have bone marrow disease. In some patients, Dixon studies were performed before and after the intravenous administration of gadopentetate dimeglumine, and in some patients follow-up examinations were performed, for a total of 64 studies. Areas of interest were the hand, wrist, foot, ankle, and lower leg. There was a special interest in the neuropathic foot and osteomyelitis. The uniformity of fat suppression in the entire field of view, the frequency of displacement artifacts, and the applicability of the technique in routine patient treatment were evaluated., Results: In 64 (100%) Dixon studies, uniform fat suppression was achieved. In 59 (92%) studies, there were no displacement artifacts. In five (8%) studies, displacement artifacts occurred; however, in only one (2%) study did they severely hamper the reading. Thus, in 63 (98%) studies, adequate diagnostic quality was obtained., Conclusion: Two-point Dixon chemical shift imaging is a good technique for achieving uniform fat suppression in the distal parts of the extremities. Because the frequency of displacement artifacts is low, the technique is applicable in a routine clinical setting.

The Museum Vrolik collection of the Department of Anatomy and Embryology of the University of Amsterdam, founded by Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), consists of more than 5,000 thousand specimens of human and animal anatomy, embryology, pathology, and congenital anomalies. Recently, the collection of congenital anomalies was recatalogued and redescribed according to contempory syndromological views. The original descriptions, as far as preserved, were compared with the clinical and radiographical findings. In 13 specimens the following multiple congenital anomalies (MCA) syndromes were diagnosed: acrofacial dysostosis, Apert syndrome, Brachmann-De Lange syndrome, ichthyosis congenita gravis, Jarcho-Levin syndrome, Meckel syndrome, oro-facio-digital syndrome type IV, Roberts syndrome, Smith-Lemli-Opitz syndrome, Treacher Collins syndrome, and trisomy 13. It appeared that the founders of the museum studied and described several of these syndromes many years before they became established as such. In some specimens a reliable diagnosis is still pending. The use of additional diagnostical techniques, such as MRI, CT scanning, and fluorescence in situ hybridization, in these specimens is currently being investigated.

Objective: To assess the efficacy, tolerability, and safety of sulfasalazine (SSZ) in the treatment of juvenile chronic arthritis (JCA)., Methods: We conducted a 24-week randomized, placebo-controlled, double-blind, multicenter study of patients with active JCA of both oligoarticular and polyarticular onset. Patients were treated with a dosage of 50 mg/kg/day of SSZ (maximum 2,000 mg/day) or placebo. The efficacy variables were joint scores, physician's, parents', and patient's overall assessments, and laboratory parameters of inflammation., Results: Of the 69 patients enrolled, 52 (75%) completed the trial. Six patients (18%) withdrew from the placebo group, and 11 (31%) withdrew from the SSZ group (P = 0.18). In the intention-to-treat analysis of end point efficacy, between-group differences were significant for the overall articular severity score (P = 0.02), all global assessments (P = 0.01), and the laboratory parameters (P < 0.001). Adverse events occurred more frequently in the SSZ group and were the main reason for withdrawal (P < 0.001), but in all instances, these events were transient or reversible upon cessation of treatment., Conclusion: The results of this first placebo-controlled study show that SSZ is effective and safe in the treatment of children with oligoarticular- and polyarticular-onset JCA, although it was not well tolerated in one-third of the patients.

The Museum Vrolik collection of the Department of Anatomy and Embryology of the University of Amsterdam, founded by Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), consists of more than five thousand specimens of human and animal anatomy, embryology, pathology, and congenital anomalies. Recently, the collection of congenital anomalies was recatalogued and redescribed according to contempory syndromological views. The original descriptions, as far as preserved, were compared with the clinical and radiographical findings. In 18 specimens the following skeletal dysplasias were diagnosed: achondrogenesis, achondroplasia, Blomstrand chondrodysplasia, Majewski syndrome, osteodysplastic primordial dwarfism, osteogenesis imperfecta type I, osteogenesis imperfecta type II, and thanatophoric dysplasia with and without cloverleaf skull. Radiography did not yield a diagnosis in 4 specimens. The use of additional diagnostical techniques, such as MRI and CT scanning and fluorescence in situ hybridization in these specimens, is currently being investigated.

The metacarpophalangeal pattern (MCPP) profile analysis is a method of comparing the length of each of the 19 tubular bones of the hand on the X-ray with the standard length in the normal population according to age and sex. An MCPP plot is a graphic illustration of the MCPP analysis. It is not the exact height of the curve on the MCPP plot which is most important, but the profile which occurs because of the individual lengthening or shortening of the bones. This pattern profile appears to be specific for several congenital malformation syndromes. We have recently used MCPP analysis in planning surgery for triphalangeal thumbs. The percentage of excessive or reduced length of each individual bone of the hand can be read from the MCPP plot and is helpful in calculating a more accurate length for the newly created thumb. MCPP analysis can be used as a diagnostic tool in a number of congenital hand malformations, but may also be helpful in planning surgical treatment of congenital hand malformations when abnormal bone length is involved.

Rationale and Objectives: Carpal Box (CB) radiographs, transverse and longitudinal, produce elongated and magnified views of the carpus. These radiographs can be used after carpal injury, in addition to conventional scaphoid x-rays. In this study, the use of CB radiographs was evaluated in patients with possible scaphoid fracture., Methods: Seventy-one consecutive patients who presented at the First Aid department from May 1994 to May 1995 were included. All patients were examined for scaphoid fracture after a fall on the out-stretched hand. If a scaphoid fracture was seen on the scaphoid x-rays, patients were immobilized. If the x-rays remained negative or dubious for fracture, additional transverse and longitudinal CB radiographs were obtained. If CB radiographs remained negative or inconclusive, patients were referred for three-phase bone scintigraphy. The results of independent and masked judgment by three different observers were used for an inter- and intraobserver analysis., Results: Twenty of 71 patients initially showed a scaphoid fracture on the conventional scaphoid x-rays, 41 were negative, and 10 inconclusive. All 41 negative patients remained negative on CB radiograph; however, the bone scintigraphy was positive for scaphoid fracture in 11 patients and in 9 patients a hot spot elsewhere in the carpus was found. Of the 10 patients with inconclusive x-rays, 2 showed a clear fracture of the scaphoid on CB radiograph, 5 were negative, and 3 remained inconclusive. The agreement between observers, calculated in kappa values, was highest in CB radiographs., Conclusions: In the diagnosis of scaphoid fracture, Carpal Box radiography is of limited value in patients with clinically suspected scaphoid fracture. In two of 10 patients with initial dubious scaphoid x-ray, bone scintigraphy can be avoided. Furthermore, the reliability of the interpretation of the radiographs is increased by additional Carpal Box radiography.

Triphalangeal thumb (TPT) is a rare congenital disorder characterised by a long, finger-like thumb with three phalanges instead of two. It can occur as an isolated defect, in association with other abnormalities of the hands and feet, or as a part of a syndrome. Sporadic cases have been described, but it is usually inherited as an autosomal dominant trait. In order to examine skeletal morphology in different phenotypic variations of this disorder, we performed metacarpophalangeal pattern profile analysis in one kindred with this disorder. A characteristic profile occurred in all affected people, based on the individual lengthening or shortening of the thumb bones. Comparison of the affected and unaffected people from this family with people with a different genetic background suggests that the described profile is specific for TPT and could be used as a helpful diagnostic tool in syndromes which include TPT.

A family is described with skeletal abnormalities involving the shoulder, elbow, and hand, in combination with variable cardiac defects including conduction defects and anatomical anomalies. The disorder followed an autosomal dominant pattern of inheritance with apparently full penetrance for the skeletal abnormalities and reduced penetrance for the cardiac defects.

Background: In dermatology and rheumatology, methotrexate is frequently prescribed in low dosages per week; in oncology, high dosages per week are prescribed. Methotrexate osteopathy was first reported in children with leukemia treated with high doses of methotrexate. In animal studies, low doses of methotrexate proved to have an adverse effect on bone metabolism, especially on osteoblast activity., Observations: Methotrexate osteopathy is a relatively unknown complication of low-dose methotrexate treatment. We describe three patients treated with low-dose oral methotrexate in whom signs and symptoms were present that were similar to those found in children treated with high doses of methotrexate. All three patients had a triad of severe pain localized in the distal tibiae, osteoporosis, and compression fractures of the distal tibia, which could be identified with radiographs, technetium Tc 99m scanning, and magnetic resonance imaging., Conclusions: Methotrexate osteopathy can occur in patients treated with low doses of methotrexate, even over a short period of time. As pain is localized in the distal tibia, it is easily misdiagnosed as psoriatic arthritis of the ankle, but the diagnosis can be correctly made by careful investigation and use of imaging techniques. The only therapy is withdrawal of methotrexate. It is important that more physicians become aware of this side effect of methotrexate therapy, which can occur along with arthritic symptoms.

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.

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.

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.

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.

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.

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.

Movement in eight sacroiliac joints was measured in preparations of embalmed elderly humans and compared with radiological findings. For the biomechanical part of the study the connections between sacrum and fifth lumbar vertebra were spared, as were the surrounding ligaments. The pelvis-spine preparation was fixed at the fifth lumbar vertebra. To induce movement, forces were directed at the acetabula. With digital displacement meters rotation was measured between the sacral and iliac part of the sacroiliac joint. In the sagittal plane both ventral rotation (as part of nutation) and dorsal rotation (as part of contranutation) could be demonstrated. Most sacroiliac joints were mobile, allowing a total rotation of up to 4°. Significant intraindividual differences in mobility occurred. One sacroiliac joint without mobility showed radiographically pronounced arthrosis. The impact of the findings on kinematic chain and clinical diagnosis is discussed. In the literature no data are available on the radiographic appearance of biomechanically studied sacroiliac joints. In the present study a biomechanical and radiological approach has been combined. The study emphasizes the clinical importance of intraindividual sacroiliac differences as well as the need for a thorough integration of pelvic and lumbar kinematics., (Copyright © 1992. Published by Elsevier Ltd.)

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.

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.

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.

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.

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.

In the classification of lethal osteochondrodysplasias, achondrogenesis and hypochondrogenesis have recently received special attention. We describe 23 cases representing the different subtypes. Within the classical type I (Parenti-Fraccaro) two distinct disorders can be recognized: type IA (Houston-Harris) and type IB (Fraccaro). The classical type II (Langer-Saldino) and hypochondrogenesis represent phenotypic variants of one disorder in which type II is the most severe form and hypochondrogenesis the mildest form, while transitional forms exist. It is likely that a basic defect in cellular function of the chondrocyte results in a deficient cartilage matrix and in disorganized enchondral ossification.