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At least 433 records · Page 24Linked to original sources
PubMed2001

Clinical characteristics of tricho-rhino-phalangeal syndrome type I in Taiwanese.

Tricho-rhino-phalangeal syndrome type I (TRPS-I) is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities. Only one case of TRPS-I has been previously reported in Taiwan. This retrospective study analyzed the clinical, roentgenographic, and histopathologic findings in seven patients with a diagnosis of TRPS-I who were treated at a hospital in Tainan during a 6-year period from 1994 to 1999. Physical examination revealed fine, sparse, and short scalp hair, a pear-shaped nose, long philtrum, thinning of the lateral portion of the eyebrows, and brachydactyly of the thumbs and big toes. The stature and intelligence of these patients were normal. Histopathologic examination of the scalp in two patients showed hypotrichosis without inflammation or scarring. Roentgenographic evaluation of both hands and feet showed cone-shaped proximal epiphyses of the middle phalanges in all patients. The findings of this report suggest that TRPS-I is not rare among Taiwanese, although the island-wide incidence is not known. The diagnosis of this syndrome in our department was greatly facilitated by our prior experience with treatment of the first patient in this series because TRPS-I is readily recognizable by its characteristic clinical and roentgenographic features. The identification of these features is important to the facilitation of genetic and cosmetic counseling. In addition to the typical craniofacial manifestations, all patients in this study showed brachydactyly of the big toes. This additional feature appears to offer an easy way to recognize the syndrome clinically.

Adolescent↗
PubMed1989

Acrorenal syndrome in an adult--presentation with proteinuria, hypertension, and glomerular lesions.

Acrorenal syndrome is characterized by central longitudinal axis defects of the limbs, ie, split hand and/or foot. Associated renal lesions described so far comprise agenesis, bilateral hypoplasia (originally diagnosed as oligomeganephronia), and duplication abnormalities. The case of a 29-year-old patient with split hand resulting from bilateral aplasia of the third phalanges associated with dysplasia of the third and fourth metacarpals is reported. In addition, the following lesions were noted: hypoplasia of the middle phalanx of the fifth toe, arched palate, pectus excavatum, hypoplastic mammilae, scoliosis, and congenital hip dislocation. The patient presented with hypertension, modest reduction of glomerular filtration, proteinuria, microhematuria, cylindruria, and moderate harmonic hypoplasia of the right kidney on angiography. Glomeruli had no immune deposits on immunohistology. Light microscopy showed widening of the mesangial axis, focal segmental glomerular sclerosis, and renal interstitial fibrosis with occasional foam cells. This case shows that the spectrum of renal abnormalities in the acrorenal syndrome is wider than previously noted.

Abnormalities, Multiple↗
PubMed1975

The use of footprints in assessing the results of operations for hallux valgus. A comparison of Keller's operation and arthrodesis.

One hundred and seventy feet have been reviewed after operations for hallux valgus; eighty-five had had arthrodesis of the first metatarso-phalangeal joint and eighty-five had had Keller's operation. Footprints were made in order to assess the patterns of weight-bearing on the big toe and on the lesser metatarsal heads. After arthodesis the big toe bore weight in 80 per cent compared with 40 per cent after Keller's operation. The ability to bear weight on the big toe is related to the presence of metatarsalgia and excessive weight-bearing on the lesser metatarsal heads. These complicaitons were seen more commonly after Keller's operation (particularly when more than one-third of the phalanx had been excised) than after arthrodesis.

Arthrodesis↗
PubMed1991

[A new test for the functional evaluation of the hand and its contribution to the study of toe transfers: the 5 matches test called "Take Five"].

After studying a series of thumbs reconstructed by 2nd toe transfer, we devised a new dexterity test: the "five matches test" or "Take Five Test" (R.S.). This test consists of the standardised timed and comparative pick-up of 5 identical fine objects (matches), permitting a simple and quick evaluation which objectively quantifies dexterity in fine pinches. The specificity of our test is that it is bilateral and comparative providing a narrow range of normality. In fact, a marked variability of time-scores is found between different individuals of a normal population, making it difficult to determine a "normal dexterity" criterion. But in the same person, there is little variability between two successive experiments or between the dominant and non-dominant hands. Examining a reconstructed hand, we have chosen as the "normal dexterity" criterion the time-score of the contralateral spared hand, timed first. The final score (from 0 to 4 points) is based on the difference between time-scores of the 2 hands (delay tested hand/spared hand). The "Take Five Test" (five matches pick-up test) has largely proven its efficiency in studying a series of thumbs reconstructed by 2nd toe transfer (operated on by V.M.). Fine pinch dexterity is satisfactory in 45% of cases (65% when long digits are spared), scoring at least 2 points (delay less than 4 seconds). The average score is 1.6 pts (range: from 0 to 4). This test could prove the functional value of parameters such as phalangeal mobility and a short delay between injury and reconstruction.

Adolescent↗
PubMed1983

Conservation of metatarsal heads in surgery of rheumatoid arthritis of the forefoot.

A new method of forefoot reconstruction for rheumatoid arthritis in 79 patients is described in which the metatarsal heads are preserved. The first metatarsophalangeal joint is fused and the bases of the proximal phalanges of only those rays involved with disease excised together with cysts and synovium. Post-operatively traction is used to maintain the length of the operated lateral toes. The results in 71 patients followed for 3-5 years after operation are reported. Excellent pain relief, improved stability and feet of normal length are achieved.

Adult↗
PubMed1992

Proliferative periosteal processes of phalanges: a unitary hypothesis.

A unitary hypothesis is offered to explain the various proliferative processes occurring around the phalanges. In the past, these have been separately designated as proliferative periostitis, bizarre parosteal osteochondromatous proliferation, and turret exostosis. Because the appearances of these entities depend on temporal factors, breaching of the periosteum, and local anatomic features, we suggest a single term, proliferative periosteal processes of phalanges.

Bone Diseases↗
PubMed1992

Osteomyelitis of the distal phalanx following trauma to the nail. A case report.

A case in which inadequate treatment of a nail plate injury resulted in chronic osteomyelitis has been described. Because of its distinct anatomy, trauma to the nail and its associated structures should not be summarily dismissed as an innocuous injury but should be thoroughly examined for phalangeal fracture and laceration of the nail bed.

Adolescent↗
PubMed1988

A new acro-cranio-facial dysostosis syndrome in sisters.

Two sisters born to consanguineous parents had a syndrome of short stature, acrocephaly, hypertelorism, proptosis, ptosis, down-slanting palpebral fissures, high nose bridge and anteverted nares, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, sensorineural and conductive deafness, proximally placed first toes and digitalized thumbs, bulbous digits, metatarsus adductus, and pectus excavatum. Radiological abnormalities included craniosynostosis, increased mandibular angle and antegonial notching of mandible; hypoplastic first metacarpals and metatarsals; hypoplastic distal phalanges; partial duplication of the distal phalanx of the thumb; malformed malleus and incus; tall lumbar vertebrae, increased interpedicular distance, and posterior scalloping; flared iliac wings, narrow supraacetabular regions, acetabular "dysplasia," and coxa valga. Autosomal recessive inheritance is suggested.

Child, Preschool↗
PubMed2002

Innovative techniques in bony reconstruction to facilitate hand salvage.

Mutilating injuries of the hand and congenital hand anomalies can present challenging reconstructive scenarios for salvage and restoration of function. During a 5-year period from 1993 to 1997, the plastic and reconstructive surgical unit of East Carolina University Medical Center was presented with a series of unique reconstructive challenges as a result of complex hand injuries that resulted in unexpected opportunities for the salvage of distal components. These traumatic injuries were unique in that, although devastating to the hand, they left the opportunity for salvage of distal vascularized and sensate components of the hand. Other unique challenges arose as a result of patients who did not want to pursue alternative reconstructive options such as toe-to-hand transfers or pollicization. These cases are presented to emphasize alternative algorithms to standard hand reconstruction in complex scenarios. Three patients presented with distal viable (vascularized and sensate) phalangeal components with proximal complex bony defects, 1 patient presented with a complex thumb defect and declined standard therapy, and 1 patient presented with a congenital thumb anomaly and declined standard therapy. All flaps survived and all hands were saved. These patients illustrate the clinical feasibility of osteocutaneous and free osseous grafting to provide strut stabilization in metacarpal defects and to preserve an opposable post after thumb amputation or thumb anomaly.

Adult↗