SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
A summary of the phalangeal set procedure has been given with indications, significance of the correction, contraindications, biomechanical factors, operative procedure, and the acceptance in many podiatric and orthopedic surgery circles. This is an ambulatory procedure for toe deformities which allows for release of toe contractures, reduction of superimposition of phalanges, increased joint space, and correction of malalignment.
A 6 1/2 year old male presented with acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum, and marked obesity. Roentgenograms of the hands revealed hypoplasia or aplasia of the middle phalanges. Roentgenograms of the feet revealed hypoplasia of the middle phalanges and deformity of the proximal phalangeal epiphyses of the great toes. Chromosomes studies revealed a normal 46,XY karyotype, and psychological testing revealed low normal intelligence. Current data support autosomal recessive inheritance, although X-linkage cannot be excluded.
A 16-year-old girl with trisomy 9p is described. She had a short stature, severe mental retardation and the following abnormal clinical findings: peculiar face with hypertelorism, downward slanting palpebral fissures, convergent strabismus, a bulbous nose with broad and prominent bridge, short upper lip, narrow, high-arched palate; short neck with low hairline; severe kyphoscoliosis and a congenital clubfoot deformity; hypoplasia and dysplasia of several phalanges of the fingers and toes and some nails, a delay by about 6 years in bone age, and remarkable dermatoglyphic patterns. The father and 3 other family members carried a balanced translocation between chromosomes 9 and 13, t(9;13)(q13;q12).
Werner syndrome is a rare autosomal recessive disorder characterized by clinical signs of premature aging, short stature, scleroderma-like skin changes, endocrine abnormalities, cataracts, and an increased incidence of malignancies. We report on a 48-year-old woman with Werner syndrome associated with intracranial meningiomas who had extensive musculoskeletal manifestations including osteoporosis of the extremities, extensive tendinopathy about the ankles, osteomyelitis of the phalanges of the first left toe, abundant soft-tissue calcification, and two dense ossified soft-tissue masses, with cortical bone and trabeculae arising from the posterosuperior aspect of the calcanei and extending into Kager fat pads. A review of previous descriptions of the radiological abnormalities of Werner syndrome indicates that the presence of soft-tissue calcifications has either not been noted or been mentioned only briefly. Moreover, there is no mention of bony masses associated with Werner syndrome in the world literature, and this would appear to be the first report of this kind.
A case of pyknodysostosis in a 32-year-old woman has been reported. The patient presented typical skeletal changes, separated cranial sutures, open fontanelles, partial aplasia of the terminal phalanges of the fingers and toes, and brachyphalanges. The oral findings included lesions resembling periapical cementoma, hypoplasia of the maxilla and mandible, crowding of teeth, and a median raphe.
Hereditary sensory neuropathy Type II (HSN II) is an autosomal recessive disorder characterized by the loss of peripheral sensory modalities in individuals with otherwise normal development. Patients with HSN II often have chronic ulceration of the fingers and toes, autoamputation of the distal phalanges, and neuropathic joint degeneration associated with loss of pain sensation. Recent descriptions of a similar phenotype in mice carrying a targeted mutation in the low affinity nerve growth factor receptor, p75NGFR, suggested the possibility that mutations in this gene or other members of the nerve growth factor (NGF) family of genes and their receptors might be responsible for this human disorder. In this study candidate genes were evaluated by their inheritance pattern in two sisters affected with HSN II, their unaffected sister and mother in a consanguineous family. The segregation of polymorphic alleles at and around loci for p75NGFR, TRKA, TRKB, BDNF, and familial dysautonomia (another hereditary sensory neuropathy having features in common with HSN II) virtually excluded these genes as the cause of HSN II in this family. Further evaluation of loci for other neurotrophic factors and their receptors, which will be possible when mapping information on their loci becomes available, may permit the identification of the gene responsible for HSN II.
An eight-week-old infant, the fourth child of consanguineous parents presented with intractable neonatal seizures. The mother had two previous miscarriages. The infant initially presented on day one with multifocal myoclonus, complex partial and generalised tonic-clonic seizures. On examination, there were dysmorphic hands and feet, with absent nails and terminal phalanges of the fingers and toes, hepatomegaly, marked axial and peripheral hypotonia and severe global developmental delay. Ophthalmological assessment showed 'salt and pepper' pigmentary retinopathy. The urinary organic acid profile revealed a marked increase in tricarboxylic acid metabolites. Urinary phosphate reabsorption was reduced at 84%. Type I fibre atrophy was seen on muscle histology, and a cytochrome c oxidase deficiency was found only on enzymology of liver tissue. Limb malformations associated with respiratory chain defects have rarely been reported. To our knowledge, this child has the most severe limb anomaly associated with a tissue-specific complex IV respiratory chain defect.
This study examined the effect of ageing on the swing phase mechanics of young and elderly gait. Sagittal plane marker trajectories and force plate data were collected while 10 young (24.9+/-0.9 years) and eight elderly (68.9+/-0.4 years) subjects walked at their preferred walking speeds. Comparison between young and elderly gait was made for a range of spatial-temporal, kinematic and kinetic variables with emphasis given to identifying possible differences at toe-off, minimum metatarsal-phalangeal joint clearance and heel contact. In order to control for the confounding effect of gait velocity on the dependent variables, a multivariate analysis of covariance was used to identify differences between the young and elderly subjects due to age. In contrast to studies that have reported lower preferred walking speeds in the elderly compared to the young [J.O. Judge, R.B. Davis III, S. Ounpuu, Step length reductions in advanced age: the role of ankle and hip kinetics, Journal of Gerontology: Medical Sciences 51 (1996) M303-312; D.C. Kerrigan, M.K. Todd, U. Della Croce, L.A. Lipsitz, J.J. Collins, Biomechanical gait alterations independent of speed in the healthy elderly: evidence for specific limiting impairments, Archives of Physical and Medical Rehabilitation 79 (1998) 317-322], no differences in walking speed nor in the spatial-temporal variables that determine walking speed were detected. The elderly were however, found to have a greater hip extension moment at the time of minimum metatarsal-phalangeal joint clearance, and a significantly higher anterior-posterior velocity heel contact velocity that was linked to a significantly higher shank and foot angular velocity at heel contact. Since many gait variables are highly correlated with walking speed [C. Kirtley, M.W. Whittle, R.J. Jefferson, Influence of walking speed on gait parameters, Journal of Biomechanical Engineering 7 (1985) 282-288; D.A. Winter, Biomechanical motor patterns in normal walking, Journal of Motor Behaviour 15 (1983) 302-330], differences between young and elderly gait found in the present study may therefore be attributed to ageing, rather than a secondary effect of differences in gait velocity.
BACKGROUND: Feingold syndrome is a combination of hand and foot anomalies, microcephaly, tracheo-esophageal fistula, esophageal/duodenal atresia, short palpebral fissures and developmental delay. The most frequent physical findings are clinodactyly of the second and fifth fingers with absent or hypoplastic middle phalanges, and syndactyly of the toes. Inheritance is autosomal dominant (MIM number 164280) with full penetrance concerning hand anomalies, variable expressivity and great intrafamilial variability. CASE REPORT: We report the case of an African boy with duodenal atresia, microcephaly, brachymesophalangy of the second and fifth fingers, unilateral thumb hypoplasia, bilateral syndactyly of toes 2-3 and amesophalangy of the toes. Karyotype was normal. No other member of the family was affected. A fresh mutation is possible. CONCLUSION: Brachymesophalangy affecting mainly the second and fifth fingers and amesophalangy of the lateral toes are cardinal clinical findings in Feingold syndrome. These clinical findings define the syndrome of brachydactyly A4-Temtamy type (MIM 112800), suggesting that brachydactyly A4 would be a partially expressed Feingold syndrome. The incidence of esophageal/duodenal atresia is 29%, including all the known cases. All karyotypes of reported patients were normal.
Brachydactyly can occur as an isolated malformation or as part of numerous syndromes. Prenatal assessment of brachydactyly may be especially helpful in multiple anomaly syndromes associated with hand and/or finger anomalies. In isolated type A1 brachydactyly, which is an autosomal dominant disorder, all middle phalanges of the fingers and toes are affected. We present a fetus with type A1 brachydactyly inherited from the mother and grandmother.
Four cases of non-familiar acropathia ulcero-mutilans (Bureau-Barriere) are described. In all cases there was a history of alcoholism, abnormal liver function, painless foot ulcers and polyneuritis. The radiological changes were confined to the lower extremities. There were osteolytic changes in the metatarsal heads and the bases of the proximal phalanges, particularly of the great toes; in addition, there was general demineralisation of the bones of the feet. One case was remarkable in that the tarsal bones and the proximal protions of the metatarsals were also involved. A variety of bone deformities were observed, and there were pathological fractures as well as subluxation and dislocation. The differential diagnosis between familial and non-familial acro-osteolysis, and of some other bone abnormalities is discussed. A multifactorial pathogenesis of the disease is suggested.
A minimally invasive model using a manual abrader to induce adhesions in the chicken's central digit is described. The flexor synovial sheath and the profundus tendon were abraded with access through small flaps at the level of the proximal and distal phalanges of the avian long toes. The birds were divided into two groups according to the severity of the induced trauma. Group I birds received an abrasion injury and were euthanized to allow biomechanical testing 5 weeks postoperatively. Group II birds had a more severe abrasion and were euthanized similarly and tested 5 weeks after surgery. Results were compared with nonsurgical controls. Long toe function was evaluated weekly by measuring (1) the range of active flexion of each interphalangeal joint, resolved to total angular range; (2) the grasping ability on graded-diameter perches; and (3) the flexion deficit of the long toe. Postmortem biomechanical properties of the adhesions were measured. There was a significant difference between the unoperated controls and abraded digits of both groups in all parameters (p < 0.001). There was, in addition, a marked change in most of the measured parameters between groups I and II. In group I digits the functional and biomechanical deficit was less than group II. In summary, this animal model of long-segment abrasive injury to the tendon and sheath is a simple and reproducible method to generate adhesions and can be used for the evaluation of treatment modalities for adhesion prevention.
Reticulate acropigmentation of Kitamura is now reported from all over the world. Additional features are being readily recognized. Our cases had pigmentation and pits on the dorsa of the distal phalanges of the fingers and toes - the classical features - as well as widely distributed pits on the palms, palmar aspect and sides of the fingers. The involvement in our cases was more pronounced than in the previously reported ones.
The two children of an epileptic woman who underwent therapy with hydantoin during both pregnancies showed the characteristic findings of the fetal hydantoin syndrome: growth retardation, microcephaly, mental retardation, and a distinct hysmorphic pattern. Both exhibited a ridged metopic suture, hypertelorism, a short nose with a broad base, hypoplasia of the distal phalanges and nails of the toes, and inguinal hernias. In addition the 18-month-old girl exhibited epicanthal folds, strabismus, ptosis, and a small ventricular septal defect; she had been exposed in utero to 300 mg mesantoin daily. Her 6 1/2-year-old brother was more severely retarded, lacking speech and presenting with infantile autism. During pregnancy the mother had taken 400 mg mesantoin daily. About half of the offspring of epileptic women treated with hydantoin during pregnancy are mentally retarded, and 11% exhibit in addition the pattern of dysmorphic findings known as the fetal hydantoin syndrome. Hydantoin should therefore be strictly avoided in epileptic women of child-bearing age unless safe contraceptive measures are taken. In the event of pregnancy, therapeutic abortion should be considered if hydantoin therapy must be maintained.
OBJECTIVE: To diagnose a probable case of rheumatoid arthritis in a mummified female body from the 16th century and to backdate the first clinical diagnosis, entering the diatribe regarding the ancientness of the disease. METHODS: Image techniques such as normal X-ray, X-ray by mammography, total body CT and high resolution CT were used. Microscopic examination by stereomicroscopy was performed. Samples of tissue were submitted to histology. These data and the review of past literary references, of artistic representations and of paleopathological cases provided an interesting contribution to reconstruct the history of the disease. RESULTS: The body of the "Braids Lady" showed all the "stigmata" of the disease. The left hand revealed large erosions of the metacarpophalangeal joints of both the third and the fourth fingers, volar metacarpophalangeal subluxation of both the third and the fourth fingers and lateral deviation of all the fingers. The carpus showed some minute and marginal erosions of the bones. The bases of the first phalanges were slightly flared. The toes showed partially overlapped fibular deflection. CT evidenced subluxations of the joints. The body showed no involvement of sacroiliac articulation. CONCLUSIONS: The "Braids Lady" was affected by rheumatoid arthritis. A large number of features typical of the disease were recorded. Differential diagnosis supported the findings. The death of the lady was established at the end of 16th century, namely 200 years before the first clinical diagnosis worked out by Landré Beauvais in the early 1800s.
Rubinstein-Taybi is a rare malformative syndrome characterized by dysmorphic features and mental retardation. Early diagnosis in neonatal age can be facilitated by the presence of characteristic broadening of the distal phalanges of thumbs and great toes. Most of the cases are sporadic. Associated malformations such as bone anomalies, heart malformations, cell immunity deficits and metabolic alterations have been observed. This paper reports the first case of Rubinstein-Taybi syndrome associated with Dandy-Walker type cerebral malformation diagnosed in the neonatal period.
Blauth has classified congenital hypoplasia of the thumb into five grades. Grade I requires no treatment. Grade II can be reconstructed by widening the first web space with various flaps, stabilizing the metacarpophalangeal joint, and performing an opponensplasty. In such cases, a pollex abductus configuration of the flexor pollicis longus should be sought, and if found, corrected. Grades III, IV, and V require pollicization, a procedure that has become more sophisticated by attention to skin flap design, intrinsic transfer, and positioning of the head of the second metacarpal. Partial aplasia should be treated by phalangization, distraction lengthening with free toe phalanx transfer, on-top plasty, or toe-to-hand transfer. The last is made more complex by the anomalous anatomy frequently present in aplasia. Reconstruction of the infant thumb should be complete before the first birthday.
Pycnodysostosis is a term introduced by Maroteaux and Lamy in 1962 to describe characteristic features such as dwarfism, separated cranial sutures, open fontanelles, hypoplasia and absence of mandibular angle, partial aplasia of the terminal phalanges of the fingers and toes, generalized condensation of bone shadow, bone fragility, and autosomal recessive inheritance. We reported a such case in a 13-years old boy associated with an epidural hematoma. Four weeks after removal of the hematoma, lumbar puncture was performed with the initial pressure of 200mm H2O in an awake state and the plateau waves were observed several times during sleep. Such increased intracranial pressure may have caused the open fontanelle and cranial sutures in addition to dysostosis. Thus such patients require careful attention in order to prevent major bleeding from the superior sagittal sinus directly beneath the separated sagittal suture.