Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Toe Phalanges”

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.

At least 577 records · Page 32Linked to original sources
PubMed2001

A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly.

We report the case of a 9-year-old Japanese boy with spondyloperipheral skeletal dysplasia associated with facial dysmorphism, pelvic abnormalities, and distinctive hands and feet. Radiographic manifestations included mild platyspondyly with posterior scalloping, small flared ilia with shallow acetabulae, mesomelic shortening of long bones, marked delay of carpal bone maturation, and brachydactyly with hypoplastic middle and terminal phalanges bilaterally in both hands and feet. There was bilateral soft tissue syndactyly of the 2nd and 3rd interdigital spaces of the hands, the 2nd interdigital space of the feet, with hypoplastic nails. The clinical and radiographic manifestations in this case appear to represent a unique type of skeletal dysplasia.

Abnormalities, Multiple↗
PubMed1975

[Malignant tumors of the phalanges].

It is reported about two cases with squamous cell carcinoma originating from the nail bed. There are roentgenographic signs of expansive displacing lesions. In opposite there are signs of destructive lesions within the finger in metastatic bronchial carcinoma. A case of spina ventosa withe malignant degeneration and a case of rapidly growing melanosarcoma causing bone displacement are described also.

Aged↗
PubMed1991

Free vascularized whole joint transfer in children.

Reconstruction of the traumatized finger joint with epiphyseal destruction has long been problematic. Since free vascularized whole joint transfer was introduced as a treatment for joint and epiphyseal destruction, this procedure has been selected as an alternative treatment because it may provide a growing epiphysis. We have reviewed our series of 19 joint transfers. Mean age at operation was 6.2 years (range 3 to 12). Average active range of motion was 31 degrees/61 degrees for the group with posttraumatic reconstruction (n = 12) and 21 degrees/43 degrees for the group with reconstruction of a congenital deformity (n = 7), with an overall average of 27 degrees/54 degrees. Average range of motion following transfer of an metatarsophalangeal (MTP) or metacarpophalangeal (MCP) joint to an MCP joint position was 39 degrees/75 degrees (n = 4); proximal interphalangeal (PIP) to PIP transfer was 22 degrees/39 degrees (n = 13); and PIP to MCP transfer was 38 degrees/51 degrees (n = 2). The proximal phalanges in MCP joints transferred to the MCP position grew an average of 7.0 mm, and the middle phalanges of joints transferred to the PIP position grew 4.3 mm. Almost normal growth was observed in all transferred joints except two that showed premature epiphyseal closure. Indications for this procedure and techniques to improve range of motion are described.

Arthroplasty↗
PubMed2005

Brachydactylic multiple delta phalanges plus syndrome.

Delta phalanges are unusual, shortened bones of the hands and feet with abnormal epiphyses and diaphyses. Here, we report on a patient with a unique multiple congenital anomaly syndrome that includes brachydactyly consisting of multiple delta phalanges in several digits of the hands and feet. The patient, who was born to consanguineous parents, had several other congenital anomalies, including butterfly vertebrae, craniofacial dysmorphism, and coarctation of the aorta. We have called this distinctive condition "brachydactylic multiple delta phalanges plus syndrome." Although no other member of the family had obvious hand or foot anomalies, several siblings had other malformations. Possible modes of inheritance in this family include variable expression of a recessive or de novo dominant condition.

Abnormalities, Multiple↗
PubMed1979

Acroosteolysis. Problems of diagnosis--report of four cases.

Four cases of idiopathic acroosteolysis are reported. The first is a common phalangeal type, the second, the Hozay variety. The third case was diagnosed after a mumps infection, and marked regress of the changes was noted in the following years. The fourth case shows skin changes, periostitis, mild osteosclerosis, and skull changes as well as acroosteolysis.

Bone Diseases, Developmental↗
PubMed1996

Genetic variability in adult bone density among inbred strains of mice.

More than 70% of the variability in human bone density has been attributed to genetic factors as a result of studies with twins, osteoporotic families, and individuals with rare heritable bone disorders. We have applied the Stratec XCT 960M pQCT, specifically modified for small skeletal specimens, to analyses of bones from 11 inbred strains (AKR/J, BALB/cByJ, C3H/HeJ, C57BL/6J, C57L/J, DBA/2J, NZB/B1NJ, SM/J, SJL/BmJ, SWR/BmJ, and 129/J) of female mice to determine the extent of heritable differences in peak bone density, pQCT scans were taken of femurs from (a) 12-month-old inbred strain females and (b) a subset of four strains (C3H/HeJ, DBA/2J, BALB/cByJ, C57BL/6J) at 2, 4, and 8 months. In addition, pQCT scans were also obtained from L5-L6 vertebrae and proximal phalanges from the same subset of four inbred strains at 12 months of age. Comparison of bone parameters among inbred strains revealed significant differences at each of the three sites investigated. Femoral and phalangeal bones differed among strains with respect to total and cortical density, mineral, and volume. Only cortical bone parameters were significantly different among strains at the vertebral site. With respect to strain differences, the highest value for any given bone parameter was found in the C3H/HeJ strain, whereas C57BL/6J values were absolutely, or statistically, the lowest. Similarly, with respect to bone sites, cortical bone density was significantly correlated among strains. On the other hand, we found that none of the femur, vertebral, or phalangeal parameters correlated with body weight, even though body weight varied by 86% among those inbred strains. The developmental studies of femurs conducted at 2, 4, and 8 months of age with C3H/HeJ, DBA/2J, BALB/cByJ, and C57BL/6J females showed differences in total density among strains at 2 months and thereafter. Adult peak bone density was typically achieved by 4 months, whereas femurs continued to lengthen for 4 to 8 months thereafter. We conclude that (1) major genetic effects on femoral, vertebral, and phalangeal bone density are detectable among inbred strains of mice; (2) cortical bone density shares common genetic regulation at the three measured sites; and (3) within the femur, genes that regulate length and density are different.

Aging↗
PubMed1996

Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation.

A 17-year-old boy with a complex array of dysmorphic features including generalized hypertrichosis of the terminal hair, coarse face, short stature, obesity, brachydactyly with broad proximal phalanges, small and dyschromic nails, and mental retardation is reported. Virilizing endocrinopathies, obesity/mental retardation syndromes, and conditions with hirsutism associated with small or absent nails are discussed and particular emphasis is given to the syndrome of "generalized hypertrichosis terminalis and gingival hyperplasia" which shares some features with the patient.

Abnormalities, Multiple↗
PubMed2001

Determination of age, longevity and age at reproduction of the frog Microhyla ornata by skeletochronology.

Skeletochronological estimation of age, longevity, age at sexual maturity and breeding of Microhyla ornata was done. Frogs (n=62) were collected locally in August (rainy season) 1997 and brought to the laboratory. Body mass and snout-vent-length (SVL) of each frog was recorded; the 4th toe of both the hind limbs was clipped under anaesthesia, fixed in 10% formalin, demineralized in 5% nitric acid and processed for histology. Limb bones (femur, humerus, tibiofibula and radioulna) of 6 large sized frogs were also processed for skeletochronology in order to study the rate of resorption. Gonads of 25 frogs (belonging to different body size ranges) were processed for histology in order to ascertain the gametogenic status of individual frogs. One to four growth rings consisting of growth zones and lines of arrested growth (LAGs) were noticed in frogs of different body sizes; the number of LAGs remained identical in all the limb bones and phalanges in 5 out of 6 frogs. Back calculation indicated that the resorption rate is very low in this frog. Male frogs possessed sperm bundles in seminiferous tubules in the 1st year, while females showed yolky follicles in the ovary in the 2nd year. Frogs found in amplexus were 3 5 years old. The results suggest that this frog may live for a maximum of 5 years in the natural population.

Age Determination by Skeleton↗
PubMed1976

Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.

A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian family. It may represent a previously undescribed autosomal dominant trait.

Abnormalities, Multiple↗
PubMed1980

[Absence of hypoplasia of fingernails and toenails and terminal phalanges of hands and feet (author's transl)].

A case study of a female patient in which most of the fingernails and toenails and terminal phalanges of hands and feed were absent, together with retarded psychomotor development, minor mental retardation and seizures due to simple cerebral cyst, with bilateral deafness is presented. This association, similar to Coffin-Siris syndrome, is not found in the literature.

Abnormalities, Multiple↗
PubMed2003

Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome.

The ulnar-mammary syndrome (MIM 181450) includes postaxial ray defects, abnormalities of growth, delayed sexual development, and mammary and apocrine gland hypoplasia. Brachydactyly type E (MIM 113300) presents with shortening of the metacarpals and phalanges in the ulnar ray in association with moderately short stature. We describe a three-generation family with variable expression of ulnar/fibular hypoplasia, brachydactyly, ulnar ray defects and short stature. The proband had ulnar hypoplasia with missing IV-Vth fingers, fibular hypoplasia on the right, bilateral club feet, growth retardation, a hypoplastic mid-face, an ASD and hemangiomas. She had normal mammary tissue and normal sweating. The mother had short stature, midfacial hypoplasia, a hypoplastic ulna and hypoplasia of the IVth metacarpal (brachydactyly) on the right without other associated malformations. The maternal grandfather had mild bilateral fibular hypoplasia and midphalangeal brachydactyly of the IV-Vth toes. His sister had mild short stature and shortening of the IVth metacarpal of the left hand. Two-point linkage analysis with microsatellite markers spanning the Ulnar-Mammary locus at 12q24.1 did not confirm linkage. The patients may have a previously undescribed syndrome.

Adult↗
PubMed1994

[Study of hair in type I tricho-rhino-phalangeal syndrome].

Trichorhinophalangeal syndrome has three characteristic signs: slow-growing hair, pearshaped nose with high philtrum and bradyphalangia with wedge-shaped epiphyses. We report two familial cases of type I trichorhinophalangeal syndrome. Our aim was to better identify the hair anomalies. A 22-year-old boy and his 65-year-old mother had thin sparse hair with recessed fronto-temporo-occipital hair lines. The trichogramme of the occipital region showed 52% dystrophic roots and 48% telogenic roots. Polarized light revealed monochromal hair with clear << finger-end >> rhexis. Electron scan microscopy showed thin, oval, flat or cannulated hairs and folded cuticle cells. A transverse zone in the prerhexis area had no cuticle cells and << finger-end >> fractures. Histological examination showed a normal follicle count. Sebaceous and sudoriparous glands were normal. Other characteristics of trichorhinophalangeal syndrome (facial deformity with pear-shaped nose with high philtrum, clinobrachydactylia of the fingers and toes, and radiologically wedge-shaped epiphyses) were also noted. Caryotypes were normal. We emphasize the importance of folded cuticle cells and clear rhexis leading to << finger-end >> fractures. These anomalies could serve as markers in cases with few suggestive signs.

Abnormalities, Multiple↗
PubMed1994

Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome).

Tricho-rhino-phalangeal syndrome Type III (TRPS III) is a newly defined genetic entity. Only 9 patients in a family and one sporadic patient have been reported. We add another family in which 4 individuals in 3 generations are affected with this autosomal dominant trait. Although they manifested short stature, sparse hair, "pear-shaped" nose, and cone-shaped epiphyses, sharing these findings with TRPS Type I, the presence of a severe form of generalized shortness of all phalanges and metacarpals, and the absences of mental deficiency and exostoses in this family distinguish the disorder from the TRPS Types I and II. Their manifestations are quite similar to those of the patients reported as TRPS III (Sugio-Kajii syndrome).

Abnormalities, Multiple↗
PubMed1995

Acral dysostosis dyserythropoiesis syndrome.

UNLABELLED: The term congenital dyserythropoietic anaemia (CDA) designates a group of rare but well defined erythrocytic disorders. Type I is defined by macrocytosis and megaloblastic changes of the bone marrow cells. Two unrelated children with CDA are described with associated defects: absence of nails and short or absent phalanges, polysyndactyly of the fourth metacarpal. One of them had also areas of depigmentation. CONCLUSION: The association of congenital dyserythropoietic anaemia with morphological defects of hands and feet is suggested to constitute a new syndrome caused by a single morphogenetic gene.

Abnormalities, Multiple↗
PubMed1994

Two cases of congenital dyserythropoietic anaemia type I associated with unusual skeletal abnormalities of the limbs.

This report describes the cases of two young female patients with congenital dyserythropoietic anaemia (CDA) type I who presented similar hand and foot skeletal abnormalities: lack of distal phalanges and nails, and syndactyly. Up to now, some morphological malformations have been described in association with CDA type I but there is no report of skeletal defects. These two cases are suggestive of a possible association between this hereditary anaemia and specific skeletal abnormalities of the distal extremities.

Abnormalities, Multiple↗
PubMed1988

Delta formation in foot polydactyly.

Congenital triangular deformity of the foot bones may occur in phalanges and metatarsals. As it resembles the Greek letter delta it is called "delta phalanx" and "delta metatarsal". We report on 19 delta formations in ten patients with foot polydactyly. Our long-term follow-up of these patients indicates four stages in the ossification process: no ossification of the epiphysis; appearance of single or multiple ossification centers; unification of the ossification centers with nonosseous tissue between the diaphysis and the epiphysis; and, finally, complete ossification. Pathogenetically, the delta formation may represent an intermediate stage in the bifurcation process of a polydactylic ray. Splitting longitudinally in a direction from distal to proximal, it is the root of the bifurcated toe ray.

Epiphyses↗
PubMed2001

Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia.

We report a boy, born to consanguineous patients, with agammaglobulinemia associated with multiple physical anomalies: mild intrauterine growth retardation, extreme microphthalmia (clinical anophthalmia), severe microcephaly, blepharophimosis, long face with temporal narrowing, scaphocephalic skull shape, posterior cleft palate, hypoplastic, adducted thumbs with small nails, and short, inward turned halluces with absent distal phalanges and nails. Psychomotor development was moderately delayed. No mutations were found in exons of BKT and PAX-5 genes. This unreported constellation could represent a novel, autosomal recessive syndrome.

Abnormalities, Multiple↗
PubMed1986

Characteristic craniofacial appearance and brachytelephalangy in a mother and son with Kallman syndrome in the son.

We report on a mother and son with a similar facies characterized by a square forehead, small nose, telecanthus, and thin upper lip. They both had a similar metacarpal-phalangeal profile characterized by marked brachytelephalangy. They were both short in comparison to other family members, and the son had hypogonadotropic-hypogonadism and anosmia. We favor the hypothesis of a single autosomal dominant gene with variable expression of the hypogonadism and anosmia, although there are alternative explanations for the combination.

Adolescent↗