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Hand Deformities (2):
Recent article
Hand Deformities
Abstract
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Abstract
We describe a 7-year-old boy with clinical and radiological diagnosis of pycnodysostosis, and c.436G>C (p.G146R) mutation in CSTK). He developed intracranial hypertension that required surgical decompression. Despite patent fontanels, the cause of the intracranial hypertension was identified to be a...
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PMID: 20044043
PDF is available here.
PDF is available here.
Abstract
Adult rheumatoid arthritis (RA) is the most common of rheumatoid diseases, that may cause hand dysfunction in some patients. Its equivalent in children is juvenile chronic arthritis (JCA). The aim of our study was to evaluate differences in hand deformity between children with JCA and adults with RA...
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PMID: 20169874
PDF is available here.
PDF is available here.
Abstract
We report on two new patients (a mother and her son) representing the first case of autosomal dominant inheritance. These patients met the clinical and radiological criteria for SCT and did not present any features which could exclude this diagnosis. Molecular analysis failed to identify mutations i...
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PMID: 18470895
PDF is available here.
PDF is available here.
Abstract
The higher frequency of heart defects seen in SHFM1 and SHFM5 of the mapped patient group raises the question as to whether common mechanisms/genetic players are involved. Candidate genes for SHFM1 and SHFM5 include members of the DLX homeobox gene family.
Copyright 2008 Wiley-Liss, Inc....
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PMID: 18383509
PDF is available here.
PDF is available here.
Clinical Rheumatology (26)11 2007
Abstract
A 56-year-old man presented with pain and stiffness in both shoulders and developed severe, rapidly progressive contractures of the fingers. Examination revealed subcutaneous thickening in both palms with fixed flexion deformities of all digits except the thumbs. Initial investigations including a m...
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PMID: 17310269
PDF is available here.
PDF is available here.
Clinical Rheumatology (26)11 2007
Abstract
I is an inherited disease caused by the absence or malfunctioning of lysosomal enzymes. Three subtypes, based on severity of symptoms, were described, and Scheie syndrome (also called MPS I S) is the mildest form. Although there may be some typical extra-articular manifestations, musculoskeletal inv...
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PMID: 17264973
PDF is available here.
PDF is available here.
Abstract
Abstract
We envisage organ donation in neonatal period? 2) immunological aspects. The non-vital character of this condition and its' good functional tolerance cannot make accepting the risk of adverse effects of hand allotransplantation. Hence, one may consider this surgery only without immunosuppression. Ca...
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PMID: 17688993
PDF is available here.
PDF is available here.
Abstract
We report such a rare case in a thirty four year old male patient, who presented with a swelling of the right upper limb and a marked increase in the size of the right thumb, index finger and radial half of the right hand, present since birth, with progressive increase to the present size. Amputatio...
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PMID: 17883140
PDF is available here.
PDF is available here.
Abstract
Clinical Dysmorphology (16)2 2007
Abstract
We hypothesized that the drug will improve osteolysis and/or osteoporosis in this condition. After obtaining informed consent from the parents, two siblings affected with Torg-Winchester syndrome were administered intravenous pamidronate over a period of 3 years. The clinical status was monitored al...
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PMID: 17351352
PDF is available here.
PDF is available here.
Abstract
Abstract
Systemic sclerosis (scleroderma) is a rare generalized disorder of connective tissue origin. This condition is predominantly a clinical diagnosis, based on the clinical signs and symptoms. Here is a case report of 26-year-old female patient with the classical features of this disease. This case is r...
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PMID: 17347542
PDF is available here.
PDF is available here.
JBR-BTR : organe de la Societe royale belge de radiologie (SRBR) = orgaan van de Koninklijke Belgische Vereniging voor Radiologie (KBVR) (90)5 2007
Abstract
Abstract
Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC) is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced pene...
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PMID: 17314449
PDF is available here.
PDF is available here.
Abstract
INTRODUCCTION: Symbrachydactyly is fairly frequent congenital malformation that appears during first weeks of pregnancy. The range of clinical presentations goes from hypoplastic fingers to true agenesis. Although it usually appears in a random fashion, sometimes it is associated to other systemic m...
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PMID: 17240951
PDF is available here.
PDF is available here.
Abstract
Biochemical analysis of collagens extracted from skin fibroblasts is a powerful tool to detect the subset of patients with complete absence of proalpha2(I) collagen chains, and in these patients, careful cardiac follow up with ultrasonography is highly recommended because of the risk for cardiac val...
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PMID: 16816023
PDF is available here.
PDF is available here.
La Revue du praticien (56)2 2006
Abstract
A large number of medical consultations are related to musculoskeletal abnormalities. Less than 10 percent of patients are referred for surgery. In most cases, history taking and a mere clinical examination are sufficient to establish a diagnosis. Useful additional tests are usually limited to stand...
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PMID: 16584039
PDF is available here.
PDF is available here.
Zhongguo Xiufu Chongjian Waike Zazhi/Chinese Journal of Reparative and Reconstructive Surgery (20)1 2006
Abstract
149 cases were followed up for 4 to 30 months. One fingertip was in necrosis and ended in nub plasty because of inappropriate time to leave hospital. Flexion contracture recurred in 7 cases, skin necrosis occurred to 3 cases whose scars were healed in the end, poor restoration of function was observ...
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PMID: 16457443
PDF is available here.
PDF is available here.
Ophthalmic Genetics (26)3 2005
Abstract
We describe a case of Aarskog syndrome with venous tortuosity, optic nerve hypoplasia, and a type-2 antithrombin deficiency....
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PMID: 16272060
PDF is available here.
PDF is available here.
Clinical Rheumatology (24)5 2005
Abstract
I collagen tissue of the sclera, skin, ligaments, and skeleton, presenting with ligament laxity resulting in subluxations and hand deformities may be misdiagnosed as hand deformities of rheumatoid arthritis....
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PMID: 15856364
PDF is available here.
PDF is available here.
Statistics in Medicine (24)16 2005
Abstract
We emphasise two characteristics of the proposed method: That the correlation structure satisfies the constraints on the second moments and that the estimation of the correlation structure guarantees consistent estimates of the regression coefficients. In addition we extend the mean specification to...
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PMID: 15977293
PDF is available here.
PDF is available here.
Abstract
We report a case of a congenital palmar nail syndrome of both little fingers on a boy 13 years old....
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PMID: 16087040
PDF is available here.
PDF is available here.
Lancet Neurology (4)7 2005
Abstract
We review the background and clinical features of these deformities to highlight these commonly unrecognised and poorly understood parkinsonian signs....
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PMID: 15963445
PDF is available here.
PDF is available here.
American Journal of Roentgenology (184)6 Suppl 2005
Abstract
OBJECTIVE: The educational objectives of this continuing medical education activity are for the reader to exercise, self-assess, and improve skills in diagnostic radiology with regard to the interpretation of radiographs, CT, and MRI of the hand and to improve understanding of the appropriate use of...
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PMID: 15908517
PDF is available here.
PDF is available here.
Clinical Genetics (67)5 2005
Abstract
We have experienced two types of digital abnormality without other complicating developmental defects; a family with foot PPD-IV with syndactyly of the third and fourth fingers, and four sporadic cases with biphalangeal thumb polydactyly (PPD-I). The genes responsible for syndactyly of the third and...
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PMID: 15811011
PDF is available here.
PDF is available here.
Anales de Pediatría (62)3 2005
Abstract
The acute effects of mild traumatic brain injury on finger tapping with and without word repetition.
Abstract
These results confirm the view that there is a generalized slowing of processing ability following mTBI....
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PMID: 15903152
PDF is available here.
PDF is available here.
Abstract
The solitary osteochondroma, a common pediatric bone tumor, is a cartilage-capped exostosis. Hereditary multiple exostosis is an autosomal dominant disorder manifested by the presence of multiple osteochondromas. Linkage analysis has implicated mutations in the EXT gene family, resulting in an error...
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PMID: 15850368
PDF is available here.
PDF is available here.
Abstract
Epidermolysis bullosa (EB) is a diverse group of disorders that have as a common feature blister formation with tissue occuring at variable depths in the skin and/or mucosa. This article reports two cases of EB and review oral-clinical findings of the EB types and approaches for managing the oral-cl...
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PMID: 16302602
PDF is available here.
PDF is available here.
Prenatal Diagnosis (25)1 2005
Abstract
Cytogenetic studies and haplotype analysis of the fetus and both parents showed that the fetus carried a de novo deletion encompassing a region of about 30 Mb on the paternal chromosome 2q (karyotype 46,XX,del(2)(q24.2-q32.2)). CONCLUSION: This is the first instance of increased nuchal translucency...
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PMID: 15662696
PDF is available here.
PDF is available here.
Abstract
Abstract
We describe an 11-year-old boy, with clinically normal parents, who had a developmental disorder that resembled EEC (ectrodactyly ectodermal dysplasia-clefting) syndrome (OMIM 604292). He had ectrodactyly and missing middle fingers bilaterally, onychodysplasia, hypodontia with missing teeth, hypohid...
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PMID: 15550149
PDF is available here.
PDF is available here.
Abstract
I had the unique opportunities to work in Honduras and Cambodia, 2 countries with rich cultural heritage residing at opposite ends of the world. This report describes my observations and my experiences in these 2 countries....
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PMID: 15576206
PDF is available here.
PDF is available here.
Abstract
Abstract
Abstract
We found 33 subjects who met the diagnostic criteria for NBCCS. Relative frequencies of associated complications are presented and compared with those of the English literature. Odontogenic keratocyst (OKC) and palmar and/or plantar pits, and hypertelorism were the most frequently observed anomalies...
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PMID: 15183409
PDF is available here.
PDF is available here.
Abstract
Neuromuscular Disorders (14)3 2004
Abstract
We describe a Polish patient with Charcot-Marie-Tooth type 1B disease. Sural nerve biopsy demonstrated focally folded myelin. Molecular genetic analysis of the coding region of the Myelin Protein Zero gene revealed a novel mutation, Thr65Ala, in exon 2 of the Myelin Protein Zero gene....
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PMID: 15036333
PDF is available here.
PDF is available here.
Abstract
Popliteal pterygium syndrome is a well defined complex that consists of popliteal pterygium, intercrural pterygium, various digital anomalies that include hypoplasia or agenesis of digits, syndactyly, valgus or varus deformities of the feet and oral anomalies such as cleft lip-palate. A baby with th...
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PMID: 15080416
PDF is available here.
PDF is available here.
Abstract
Abstract
Musculoskeletal abnormalities of musicians' hands and upper extremities are well-recognized and potentially career-threatening problems. Of the many types of potentiality problematic musculoskeletal disorders that could be assessed, this study focused on joint instability and musculotendinous anomal...
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PMID: 14663225
PDF is available here.
PDF is available here.
Clinical Genetics (64)4 2003
Abstract
We report a significant decrease of Dactylin transcript in several individuals affected by SHFM. This observation supports a central role for dactylin in the pathogenesis of SHFM....
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PMID: 12974740
PDF is available here.
PDF is available here.
Human Molecular Genetics (12)16 2003
Abstract
We screened the coding region of DACTYLIN by single-strand conformation polymorphism and sequencing, and found no point mutations. However, Southern, pulsed field gel electrophoresis and dosage analyses demonstrated a complex rearrangement associated with a approximately 0.5 Mb tandem duplication in...
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PMID: 12913067
PDF is available here.
PDF is available here.
Abstract
Der Orthopäde (32)5 2003
Abstract
Postoperative rehabilitation starts with preoperative evaluation of the patient. The outcome of rehabilitation measures is strongly dependent on the surgeon's ability to define a realistic rehabilitation aim, i.e., a goal the patient can achieve with a high degree of probability. Therefore, knowledg...
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PMID: 12743691
PDF is available here.
PDF is available here.
Der Orthopäde (32)5 2003
Abstract
Journal of Rheumatology (30)5 2003
Abstract
Abstract
Abstract
Wiener Medizinische Wochenschrift (153)9-10 2003
Abstract
Ergotherapeutic splinting is essential in the treatment of diseases, injuries and innate deformities of the hand. However due to its high material and staff costs, a definitely diagnosed indication is a prequisite for prescription. A retrospective study was performed using the Krankenhausinformation...
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PMID: 12836460
PDF is available here.
PDF is available here.
Abstract
The present paper reviews the anatomy of palmaris longus muscle and also the situations where palmaris longus muscle has been used as an independent motor or as a donor of tendon graft material. Its relevance in leprosy-affected hands is also discussed because the muscle is usually spared in hand pa...
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PMID: 15242271
PDF is available here.
PDF is available here.
Chirurgie de la Main (21)5 2002
[The "candlestick" technique for the correction of certain types of congenital metacarpal synotosis]
Abstract
Metacarpal synostosis is a rare congenital hand malformation requiring only occasionally a surgical correction. However in case of divergent epiphyses there is a progressive accentuation of the deformity. In the "Y" type of symmetrical synostosis, the authors propose a trapezoidal osteotomy with ups...
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PMID: 12491705
PDF is available here.
PDF is available here.
Abstract
We report on four infants with hypoplastic thumbs and occipital encephaloceles. None had either a chromosome abnormality or a family history of any major malformation. The literature and database were searched intensively. No similar cases were reported previously, suggesting that the constellations...
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PMID: 12210346
PDF is available here.
PDF is available here.
Human Genetics (110)5 2002
Abstract
We describe the phenotype and its molecular basis in a family that presented with HFGS. Genetic analysis revealed that the condition is caused by an 18-bp in-frame duplication within a cryptic trinucleotide repeat sequence encoding an 18-residue polyalanine tract in the homeoboxgene ( HOX) A13. This...
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PMID: 12073020
PDF is available here.
PDF is available here.
Abstract
We describe two siblings, a brother and a sister, with mental retardation and limb abnormalities (brachymetacarpy and brachymetatarsy in the brother and clinodactyly in his sister). Fluorescent in situ hybridization analysis (FISH) using subtelomeric probes proved that the patients carried an unbala...
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PMID: 11920836
PDF is available here.
PDF is available here.
Chirurgie de la Main (21)2 2002
Abstract
The average of the operation was eighty minutes. The survival of the flaps was excellent. Only one flap had a partial necrosis. CONCLUSION: Posterior interosseus flap may be used in coverage of children's limb. The diameter of the vessels is not a difficulty in the flap dissection. As the adults, th...
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PMID: 11980337
PDF is available here.
PDF is available here.
Abstract
Mobius sequence/syndrome is a rare disorder characterized by congenital palsy of the 6th and 7th cranial nerves. Other cranial nerves may be affected, skeletal and orofacial anomalies and mental retardation occur. The aims were to determine the frequency of associated clinical characteristics and to...
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PMID: 11993954
PDF is available here.
PDF is available here.