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PubMed1988

Effect of pregnancy on the lamina dura.

Serum chemistry studies and radiological examination of the lamina dura and phalanges were conducted in 50 pregnant women, 25 of whom had been administered calcium and vitamin D supplements during the 3rd trimester. The non-supplemented pregnant women showed significant hypocalcaemia, elevated serum heat-labile alkaline phosphatase activity, and resorption of the lamina dura. The supplemented group of pregnant women also showed resorption of the lamina dura, although the serum chemistry was essentially normal. It is suggested that, probably because of gestational hyperparathyroidism, mild resorption of the lamina dura may be a feature of normal pregnancy.

Adult↗
PubMed1994

Preaxial brachydactyly with abduction of thumbs and hallux varus: a distinct entity.

We describe a father and his daughter who had a unique pattern of preaxial brachydactyly, and unusual facial appearance. Both had short broad abducted thumbs and halluces. The second digits of both hands were also short and broad and those of feet were medially angulated. The radiographic findings were short first metacarpals and first metatarsals and hypoplastic phalanges of first two digits of hands and feet. A similar pattern of brachydactyly was described by Christian et al. [1972: Am J Hum Genet 24:694-701] and Mononen et al. [1992: Am J Med Genet 42: 706-713]. Our patients differ from those described by Christian et al. in that they did not have any mental retardation and from those of Mononen et al. by the absence of short stature and epiphyseal and metaphyseal changes. The heterogeneity of this new type of brachydactyly remains to be resolved.

Abnormalities, Multiple↗
PubMedDate not supplied

Musculoskeletal manifestations of Russell-Silver syndrome.

The musculoskeletal manifestations of Russell-Silver syndrome were studied in 25 patients. The most common manifestations were short stature (25 patients), limb-length discrepancy (23 patients), clinodactyly (19 patients) metacarpal bone and phalangeal abnormalities (13 patients), scoliosis (9 patients), foot syndactylism (5 patients), and developmental dysplasia of the hips (3 patients). Five patients underwent lower extremity limb-lengthening procedures for discrepancies greater than 3 cm and three patients had successful pelvic and/or femoral osteotomies for hip dysplasia. All 18 patients studied had retardation of bone age, which peaked at age 7 years.

Abnormalities, Multiple↗
PubMed2000

Bilateral cleft lip and palate and limb deformities: a presentation of amniotic band sequence?

We report a case of a child born with bilateral complete cleft lip and palate, absence of the left lower leg, complete absence of the right arm, and absence of the second and third distal phalanges of the right foot. The child had no other associated abnormalities. Prenatal ultrasonography recognized the cleft lip and palate but failed to appreciate the limb deformities. Although this specific constellation of abnormalities has not been previously reported in the English literature, it may represent an amniotic band sequence or two unrelated anomalies. However, unlike the vast majority of patients with amniotic band sequence described, there were no associated bizarre facial clefts or cranial defects. The case history and a review of the literature will be presented, with emphasis placed on categorization of these specific anomalies.

Amniotic Band Syndrome↗
PubMed1995

A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?

Syndactyly type II (synpolydactyly (SPD)) is an autosomal dominant condition with typical abnormalities of the distal parts of both upper and lower limbs. We report here a previously undescribed phenotypic feature of people with severe hand and foot deformities who were born to two affected parents. This is the first example of SPD subjects manifesting a very distinctive phenotype, suggesting that they must be homozygous for this condition. The typical characteristic clinical features in these subjects are as follows: (1) short hands with wrinkled fatty skin and short feet; (2) complete soft tissue syndactyly involving all four limbs; (3) polydactyly of the preaxial, mesoaxial, and postaxial digits of the hands; (4) loss of the normal tubular shape of the carpal, metacarpal, and phalangeal bones, so as to give polygonal structures; (5) loss of the typical structure of the cuboid and all three cuneiform bones while the talus calcaneus and navicular bones remain intact; (6) large bony islands instead of metatarsals, most probably because of cuboid-metatarsal and cuneiform-metatarsal fusions; and (7) severe middle phalangeal hypoplasia/aplasia as well as fusion of some phalangeal structures that are associated with the loss of normal phalangeal pattern. We report seven subjects with this phenotype from three different branches of a very large SPD pedigree exhibiting the same phenotype with minimal variation. In mice, the Polysyndactyly (Ps) mutation shows a pattern of synpolydactyly very similar to that of human SPD, suggesting that they may well be homologous mutations. A molecular genetic study is currently under way to determine the chromosomal location of the SPD locus in humans and to identify the corresponding homologous region in mice.

Adult↗
PubMed2003

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.

Brachydactyly (BD) type A2 is an autosomal dominant hand malformation characterized by shortening and lateral deviation of the index fingers and, to a variable degree, shortening and deviation of the first and second toes. We performed linkage analysis in two unrelated German families and mapped a locus for BD type A2 to 4q21-q25. This interval includes the gene bone morphogenetic protein receptor 1B (BMPR1B), a type I transmembrane serinethreonine kinase. In one family, we identified a T599 --> A mutation changing an isoleucine into a lysine residue (I200K) within the glycine/serine (GS) domain of BMPR1B, a region involved in phosphorylation of the receptor. In the other family we identified a C1456 --> T mutation leading to an arginine-to-tryptophan amino acid change (R486W) in a highly conserved region C-terminal of the BMPR1B kinase domain. An in vitro kinase assay showed that the I200K mutation is kinase-deficient, whereas the R486W mutation has normal kinase activity, indicating a different pathogenic mechanism. Functional analyses with a micromass culture system revealed a strong inhibition of chondrogenesis by both mutant receptors. Overexpression of mutant chBmpR1b in vivo in chick embryos by using a retroviral system resulted either in a BD phenotype with shortening and/or missing phalanges similar to the human phenotype or in severe hypoplasia of the entire limb. These findings imply that both mutations identified in human BMPR1B affect cartilage formation in a dominant-negative manner.

Amino Acid Sequence↗
PubMed1999

Chondrosarcoma of the phalanx: a locally aggressive lesion with minimal metastatic potential: a report of 35 cases and a review of the literature.

BACKGROUND: Enchondroma is the most common primary benign bone tumor of the hand, especially the phalanges, whereas chondrosarcoma is uncommon at this site. Although phalangeal chondrosarcoma may have ominous histologic features, its biologic behavior is relatively indolent. METHODS: Thirty-five cases of phalangeal lesions previously diagnosed as chondrosarcoma were studied. Histologic and tumor-biologic parameters (Ki-67 and p53 immunohistochemistry) were investigated and correlated with clinical behavior. RESULTS: All cases were characterized by unequivocal malignant histologic features (Grade 2 or higher) or Grade 1 malignant histologic features combined with the presence of cortical destruction and soft tissue extension. The median age of the patients at the time of diagnosis was 67 years (range 21-87 years), with a slight female predominance. Occurrence in the hand was more common than in the foot, with the proximal phalanx affected most often. Treatment varied from local therapy (curettage or local excision) in 16 patients to amputation or exarticulation in 19 cases. Follow-up ranged from 8-432 months for 28 patients. Ten of 15 tumors treated by local therapy recurred whereas none of 13 tumors treated by radical surgery recurred. The median survival was 20.8 years; none of 28 patients developed metastases nor died of disease. Both the type of treatment and localization in the proximal phalanx were associated independently with local recurrence. CONCLUSIONS: Phalangeal chondrosarcoma behaves as a locally aggressive lesion and, in contrast to chondrosarcomas located elsewhere, rarely metastasizes. Treatment is indicated only because of its locally destructive growth. The authors believe that given the excellent survival data, curettage with adequate follow-up should be considered as the treatment of choice if technically feasible, especially in those cases in which amputation would lead to a significant loss of hand function.

Adult↗
PubMed1976

The functional anatomy of the hindlimb of some African Viverridae (Carnivora).

The functional anatomy of the hindlimb of 12 species of viverrids was studied with relation to locomotion. The animals were allocated to primary locomotor categories on the basis of their anatomy and locomotion. The climbing, arboreal walking category (Nandinia binotata) is characterized by a small sacroiliac articulation, the iliopsoas inserts onto a medially located lesser trochanter and the femoral condyles are not posteriorly placed. The hindfoot is plantigrade and its structure permits considerable movement. The pads are soft and the claws retractile. Representatives of the arboreal and terrestrial walking and jumping category (Genetta genetta, G. servalina, G. tigrina) have a plantigrade forefoot and digitigrade hindfoot. The lesser trochanter is more posteriorly placed than in the climbing category. A previously undescribed muscle, the caudofemoralis profundus extends from several anterior caudal vertebrae to the femur. The tibio-astragular joint restricts supination of the foot. There is little mediolateral movement in the digitidgrade foot. The claws are retractile. In the general terrestrial walking and scrambling group (Helogale parvula, Mungos mungo, Atilax paludinosus, Bdeogale crassicauda, Herpestes ichneumon, H. sanguineus) the animals have essentially similar hindlimbs except for size differences and modifications to the feet. Helogale and Mungos have large medial epicondyles on the humerus and large terminal phalanges. Bdeogale has a vestigial first metatarsal, while Atilax can splay its digits. In all species the distal phalanges are non-retractile. The trotting category (Civettictis civetta, Ichneumia albicauda) is characterized by longer epipodials and metapodials and a more proximal position of muscle bellies. Most of the adaptations minimize rotation, adduction and abduction of the leg and supination of the foot. The metatarsals are closely adjoined and the distal phalanx is stout and non-retractile. There appear to be two levels of locomotory adaptation. Major adaptations affect the whole appendicular skeleton and are used to assign animals to primary locomotor categories. Minor adaptations occur mainly in the foot and indicate the more specific habits of the animal.

Africa↗
PubMed1980

Heart-hand syndrome. III. A new syndrome in three generations.

We have studied members of three generations of the same family affected by brachydactyly, which is accompanied by intraventricular conduction defects in three cases (proband's father and two of his sons) and sick sinus syndrome in the proband. The brachydactyly described affects mainly the middle phalanges of both hands; the index and fifth fingers are more severely affected than the other fingers. It also includes a rare variant with an ossicle on the proximal phalanx of both index fingers, which reduces them in length and causes them to deviate towards the ulnar border of the hand. The feet also tend to be affected, but to a lesser degree. No other pathological findings were recorded. It is therefore suggested that the anomalies detected in this family are transmitted by an autosomal dominant mode of inheritance, thus forming a syndrome.

Adult↗
PubMed1998

Shaping of the cat paw for food taking and object manipulation: an X-ray analysis.

The kinematics of the cat distal forelimb during food-taking were analysed to obtain information on the movement processes within the paw before and during object taking in a species without monosynaptic corticomotoneuronal projections. The behaviour was investigated with two tests: either the table test (TT, food offered on a table located at ground level in a reaching distance of 22 and 28 cm) or the horizontal test (HT, food offered in a small container located at shoulder level, height 18-25 cm, reaching distance 6-12 cm). In five animals, the changes in configuration and the conjoint actions of the wrist, the metacarpophalangeal (MCP) and proximal interphalangeal (PIP) joints were assessed with three-dimensional X-ray cinematography (time resolution 20 ms, spatial resolution 1 mm) and video analysis. While approaching the target, the digits were first extended and subsequently abducted. This 'preshaping' consisted of combined angular changes in the MCP and PIP joints, thereby attaining an adequate grip aperture. Each cat used a stable strategy, but different cats used different strategies. In the TT, preshaping involved an MCP extension and a PIP flexion. In the HT, predominant extension of the MCP, predominant extension of the PIP, or a combination of both were used, followed by MCP flexion and PIP flexion. The grip aperture started to decrease before object contact, earlier in the TT, later in the HT. Grasping was achieved by flexion of first the PIP and later the MCP. The X-ray analysis gave evidence for individuated digit movements. Correlation analysis of the angular position of the joints between the different phalanges showed that digits 3 and 4 acted in concert, as did digits 2 and 5, but with clear independence between the different pairs. Furthermore, the different phalanges served different purposes during the grasp. Digits 3, 4 established object contact, digits 2, 5 were mainly used to stabilize the paw onto the surface. The cat distal forelimb displays a refined movement repertoire during the preshaping and grasping phase of food-taking. During the preshaping phase, the kinematics resembled in some aspects the situation in humans. The results demonstrate the ability of the polysynaptic projections from the cortico-motoneuronal system to organize differentiated distal limb movements, including individuated movements of the digits.

Animals↗
PubMed1982

The first metatarso-sesamoid joint.

The first metatarso-sesamoid joint is separately identified from the first metatarso-phalangeal joint and its anatomical characteristics are described from a study of one hundred anatomical specimens of normal adult and children's feet and two hundred radiographs of patients' feet. The author finds that the metatarso-sesamoid joint is assymmetrical both in children and adults, the medial surface being larger than the lateral. The medial sesamoid lies centrally, and the lateral sesamoid lies laterally, under the head of the first metatarsal. A knowledge of the shape and function of this joint is important in understanding the pathology as well as the therapeutic indications of various conditions of forefoot imbalance, mainly of hallux valgus.

Adult↗
PubMed1975

Successful orthotopic free autogenous joint grafts in the dog.

Thirty free autogenous metacarpal and 26 phalangeal articular cartilages were transplanted in the forefoot of dogs. The graft in each case included the articular surface and a minimal amount of supporting subchondral bone. The majority of the metacarpal grafts retained a normal gross, microscopic, and radioautographic appearance, some for up to 1 year after transplantation. In contradistinction, all of the phalangeal grafts failed, probably because their flatt surface made it impossible to maintain adequate fixation to the host bed. As a result the majority of these grafts became displaced. Analysis of the incorporation of the metacarpal grafts into the host bed showed that this occurred when there was no significant period during which the articular cartilage was without subchondral support. The situation is different in the case of joint grafts with a larger amount of subchondral bone. In these, during the time that this necrotic bone is being resorbed and replaced by normal viable bone, the articular cartilage has extremely limited subchondral support.

Animals↗
PubMed1986

Experimental arthritis in a nonhuman primate. I. Induction by bovine type II collagen.

Six squirrel monkeys immunized with native fetal bovine type II collagen (CII) in complete Freund's adjuvant developed arthritis 3 to 6 weeks later. None of three cebus monkeys given CII plus complete Freund's adjuvant or three control squirrel monkeys immunized with complete Freund's adjuvant alone developed arthritis. In four of the squirrel monkeys, arthritis was symmetrical and involved mainly the interphalangeal and metacarpal phalangeal joints. Two other monkeys had pauciarticular disease. Although three monkeys became cachetic and died, the others regained weight and their arthritis spontaneously remitted with minor residual deformities in digits and larger joints. Each squirrel monkey with arthritis had high titers of CII antibodies whereas the arthritis-resistant cebus monkeys had lower titers of CII antibodies whereas the arthritis-resistant cebus monkeys had lower titers of CII antibodies. As an animal model, experimentally induced arthritis in primates appears to resemble an acute arthropathy in man rather than chronic rheumatoid arthritis.

Acute Disease↗
PubMed1983

Bizarre parosteal osteochondromatous proliferations of the hands and feet.

We report 35 cases of peripheral skeletal osteochondromatous tumefactions which are both histologically and radiologically distinctive. The ages of the patients ranged from 14 to 74 years, with no sex predilection. Symptoms were related to the tumefaction. None of the patients had antecedent physical trauma or radiation. All lesions occurred on proximal phalanges, metatarsals, or metacarpals. Primary treatment was usually excision, and the gross appearance was typically that of a small osteochondroma. Histologically, the lesion exhibited marked proliferative activity, irregular bony-cartilaginous interfaces, and enlarged, bizarre, and binucleate chondrocytes, mimicking chondrosarcoma. Radiologically, the proliferations lacked both central continuity of the tumor with the underlying osseous medulla and "flaring" of the adjacent cortices. In 18 cases, the lesions recurred after primary excision, and at least eight lesions recurred twice. In spite of the rate of recurrence and the disturbing histologic appearance of these proliferations, behavior as a malignant tumor is either very rare or nonexistent.

Adolescent↗
PubMed1974

Modification of the postural response of the normal dog by blindfolding.

1. Normal dogs were trained to stand quietly upon a movable platform. The animals' postural adjustments in response to sinusoidal motion of the platform were assessed in both the normal and the blindfolded condition. The induced postural adjustments were described by the Fourier coefficients for the fundamental of the input together with the coefficients which were integral multiples of the fundamental.2. All of the output variables, including motion at the hind limb joints and of the body, showed modifications when the dogs were blindfolded. The body motion increased in amplitude, as measured by the fundamental Fourier coefficient, and further lagged the input motion. Motion at the knee and phalangeal joints also increased in amplitude and the timing of these movements shifted from the normal in characteristic patterns for different frequencies of input motion.3. The modifications of the postural response due to blindfolding were most pronounced at the lower input frequencies: 0.2-1.0 Hz. At 1.4 Hz or above the fundamental coefficients of most of the output measures resembled those of the normal condition. Even at the higher input frequencies, however, the postural response of the blindfolded dog was more distorted than that of the normal dog.4. It is hypothesized that relatively slow movement of the visual surround provides the dog with information which is essential to normal operations of the postural control system.

Animals↗
PubMed2005

[Hands and feet of Simian primates: an attempt at morphological characterization].

The carpal height, the length of the metacarpus, the metatarsus, and of all the phalanges of 269 simians were measured, then for each specimen, converted to percentage taking the 3rd metacarpus as the reference unit. They were then compared despite differences between specimens. The average values were determined for the different species, subspecies or families. Mathematical ratios were established: height of the carpus divided by the 3rd metacarpus, carpus divided by the 1st metacarpus, 1st ray of the hand divided by the 2nd, 1st ray of the hand divided by the 1st ray of the foot. CONCERNING THE HAND: For little monkeys, the length of the carpus and the medial metacarpus were similar to those observed in humans. Colobinae exhibited a relatively short thumb column. The length of the thumb was slightly shorter for the platyrrhinii and cercopithecinae, especially macacus. Some hapalidae had a relatively longer thumb than humans. All of their medial fingers were longer than those observed in humans. The big monkeys had a smaller carpus and thumb column, sometimes much smaller than in humans, with a similar length for the metacarpi and the medial fingers, except for gibbons, whose medial fingers were longer. CONCERNING THE FOOT: The 1st ray in humans is nearly as long as the 2nd toe, the other toes being very short. The 1st ray of the hallux of all monkeys was always longer than the ray of the thumb, but shorter than the hallux of humans. The other metatarsi of little monkeys were similar to those in humans, except for the platyrrhinii which had a shorter 2nd metatarsus. The lateral toes, which were much longer than in humans, were very similar to fingers though slightly longer, except for platyrrhinii with much longer toes. The big monkeys had very short metatarsi and slightly smaller lateral toes than humans.

Animals↗
PubMed2005

Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1.

Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals (especially 4th and 5th) and absence of the 4th knuckle (brachydactyly type E). Here we describe a case that recently came to our attention of a girl suffering from seizures caused by hypocalcaemia, in which the clinical diagnosis of Albright's hereditary osteodystrophy and Pseudohypoparathyroidism (PHP) (Pseudohypoparathyroidism Ia) was confirmed by DNA molecular analysis. This analysis revealed a novel mutation of GNAS 1, resulting in the nonsense mutation of exon 13 (CAG-->TAG, codon 384). This result expands the spectrum of GNAS1 mutations associated with this disorder.

Chromogranins↗
PubMed1980

Trauma to the carpus, tarsus, and phalanges of dogs and cats.

The methods described are those currently employed by the authors for the injuries described. As surgical results accumulate, we hope to modify and improve our methods. Many injuries to the carpus and tarsus have been omitted. Many questions remain unanswered. How long must external coaptation be applied? When is the optimum time for removal of internal fixation devices? Are sclerosing agents more successful for the management of interphalangeal luxations than primary suturing? Should autogenous cancellous bone be used in all arthrodeses? What is the best method of handling sesamoid fractures, and what is the best postoperative care for these fractures? When should passive joint movement be initiated? What is the owner's optimum role in providing rehabilitative physical therapy? Only be evaluating large numbers of clinical cases or controlling experimental cases can these questions be answered.

Animals↗