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At least 19 recordsLinked to original sources
PubMed1996

Congenital Deformities of the Upper Extremity.

Congenital deformities of the upper extremity are rare. They are often associated with other, more severe disorders of the cardiovascular, craniofacial, neurologic, and musculoskeletal systems. Most upper-extremity congenital anomalies are minor and cause no functional deficits, and surgical reconstruction is therefore unnecessary. If a severe cosmetic deformity is present or there is significant functional compromise, surgical treatment is indicated. The authors review the common congenital deformities of the upper extremity and offer treatment recommendations.

Journal Article↗
PubMed1990

Timing and decision-making in the treatment of congenital upper extremity deformities.

With growth and development, the hand undergoes profound structural and functional changes. Congenital anomalies lead to development of aberrant functional patterns. Appropriate timing of surgical correction is essential to minimize deformity and prevent development of aberrant function before set patterns of cortical control have occurred. By the same token, certain anomalies should not be treated surgically since such treatment may interfere with function. A clearer understanding of pathologic anatomy of deformities such as radial club hand, hypoplastic thumb, and thumb duplication has enabled a more rational surgical approach. Microsurgery has an increasing role to play in the treatment of these deformities.

Age Factors↗
PubMed1996

Congenital disorders of the hand and upper extremity.

This article summarizes normal formation and growth of the upper limb as a basis for understanding malformation. Shoulder anomalies, including Sprengel's undescended scapula, clavicle pseudarthrosis, cleidocraniodystostosis, and Poland's syndrome, are presented. Classification and examples of limb malformations are discussed as well as neuromuscular disorders, such as obstetric brachial plexopathy, cerebral palsy, and arthrogryposis. The author hopes that this article provides a basic understanding of the evaluation necessary for appropriate counseling and referrals for treatment of the child with hand and upper extremity congenital deformities.

Arm↗
PubMed2003

[Incidence of congenital defects in the children of mothers who used medications in the first trimester of pregnancy in the Czech Republic 1996-2001].

OBJECTIVE: Analysis of the results from registration of congenital defects in children of mothers taking therapeutic drugs in the first trimester of pregnancy and comparison with a control group in the Czech Republic in the period of 1996-2001. DESIGN: A retrospective analysis of data from the registry of congenital defects in the Czech Republic. SETTING: Institute for the Care of Mother and Child, Prague. METHODS: Analysis of incidences of selected types of congenital defects detected in newborns of mothers taking therapeutic drugs during the first three months of pregnancy. The paper employed data from the all-state registration of congenital defects held in the Institute of Medical Information and Statistics of the Czech Republic in the period of 1996-2001. Data from healthy children born to mothers who took therapeutic drugs during the first trimester of pregnancy were used as a control set. RESULTS: In the period we observed, a total of 17,674 cases of children with diagnosed congenital defect were detected in the registration of congenital defects in the Czech Republic. In this number there were 784 cases of children whose mothers used therapeutic drugs during the first trimester of pregnancy. The control group included 1,034 women who gave birth to healthy children without congenital defects, although they took therapeutic drugs during the first trimester of pregnancy. Statistically significantly higher risk was found in 13 groups of diagnoses: anencephaly, inborn hydrocephalus, spina bifida, inborn defects of eyelids, lacrimal system and orbita, anoftalmus, microphthalmus and macrophthalmus, inborn defects of ear, congenital defects of the heart septum, congenital defects of great veins, cleft palate with cleft lip, congenital defect of gall bladder, biliary pathways and liver, congenital deformities of the hip, reduction deformities of upper extremity, congenital defects of muscular and skeletal system. Significantly higher risks were found for five groups of therapeutic drugs: anticoagulants, antihypertensive drugs, peripheral vasodilatants, urological drugs and antiepileptic drugs. CONCLUSION: It is obviously impossible to draw significant conclusions with clinical consequences on the basis of these results. Nevertheless, our results supplemented international databases of untoward effects of drugs and the conclusions may become a part of data set necessary for analysis of possible teratogenic effects of drugs used in the critical developmental period during the first trimester. The pregnant women should avoid, during the first trimester, all drugs except those, which are carefully medically indicated and accepted as adequately safe. The administration of other drugs should be evaluated by a clinical geneticist, who should take into account genetic and teratogenic risk in individual cases.

Abnormalities, Drug-Induced↗
PubMed2001

[Statistical analysis of 47 cases with Holt-Qram syndrome].

By statistical analysis of 47 cases with Holt-Qram syndrome(HOS), we found that the severity of the upper limb abnormalities and cardiac defects in HOS varied significantly with different individuals. The variations of appearance were related with the types and positions of mutatons of TBX5 gene which could damage the gene function and cause HOS. It is suggested that the genetic heterogeneity in HOS may be caused by the mutations of different genes.

Abnormalities, Multiple↗
PubMed2003

Cortical remapping in amputees and dysmelic patients: a functional MRI study.

OBJECTIVES: To investigate motor cortex function in upper and lower limb amputees and dysmelic patients using fMRI. MATERIAL AND METHODS: Five amputees and two dysmelic patients were examined. Motor and imagery tasks were defined according to each patient limb deficiency. Cortical activation patterns were analysed for each patient and compared between groups, integrating patients clinical data. RESULTS: There is a consistent pattern of cortical reorganization in all amputees: predominance of activation in the ipsilateral motor cortex and extension to premotor and sensory areas of the contralateral cortex. On the contrary, cortical maps of dysmelic patients were similar to those of healthy volunteers, predominantly with activation of contralateral primary motor cortex areas. CONCLUSIONS: fMRI discloses specific patterns of cortical reorganization on amputees and dysmelic patients, suggesting influence by prosthesis adaptation or stump use with dexterity. These findings could be further applied in influencing neurorehabilitation and development of prosthetic devices.

Aged↗
PubMedDate not supplied

[Congenital unilateral muscular hyperplasia of the hand - a rare malformation].

This is a report on eight cases of a rare congenital malformation in the upper extremity, consisting of a unilateral muscular hyperplasia. In addition to the hand, all segments of the upper extremity may be affected. The hyperplasia is always unilateral, preferably on the right hand side, in combination with accessory muscles. Hereditary dependence or association with other malformations has not been observed. Six of eight patients were male. Shoulder and arm function were normal in all cases. Ulnar drift of the fingers in the metacarpophalangeal joints (six of eight patients), flexion contractures of the metacarpophalangeal joints (six of eight patients) and extension contractures of the wrist (three of eight patients) to various degrees were seen. A prominence of the second and third metacarpal head with an enlarged space between them gave the affected hands a very typical appearance (six of eight patients). Deformities and functional limitations requiring surgical treatment were present in six patients. In all cases, accessory muscles were found intraoperatively and resected. The macroscopic and microscopic appearance of the muscle specimen did not differ from normal muscular tissue. In all cases, additional procedures were necessary to improve the overall function. Nevertheless, the reconstructive efforts did not lead to an entirely normal hand function or appearance. The malformation we describe can clearly be distinguished from other malformations such as arthrogryposis multiplex congenita, Freeman-Sheldon syndrome or macrodactyly. Up to now, only two other reports were found in the literature showing characteristics similar to those in our own cases. Four similar cases were observed by Benatar. From a pathomechanical point of view, a disturbance in the muscular balance seems to cause the deformities and functional limitations. This imbalance could be related to accessory muscles which are not opposed by defined antagonists or to an unbalanced hyperplasia of normally developed musculature. Surgical intervention should begin early to prevent joint stiffness. Splinting and hand therapy should precede surgical intervention. Surgical treatment should aim to restore the muscular balance by resection of accessory and hyperplastic musculature. In some cases, muscle transpositions and joint releases may have to be performed. Postoperative splinting and intensive hand therapy are mandatory to preserve the results.

Adolescent↗
PubMed2005

Clinical and cytogenetic findings in 14 patients with madelung anomaly.

Madelung deformity of the wrist is a congenital defect caused by a growth disturbance in the volar-ulnar distal radial physis leading to a typical appearance of the upper extremities. The majority of Madelung deformity case caused by hereditary dyschondrosteosis of the wrist. In a number of instances, the disease has a genetic etiology. This article reports the clinical and cytogenetic findings associated with Madelung deformity in 14 patients. Results indicate Madelung anomaly often is associated with additional clinical abnormalities, particularly delayed puberty and menstrual disorders, as well as sexual chromosome aberrations.

Adolescent↗
PubMedDate not supplied

Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families.

Holt-Oram syndrome (HOS) is a specific developmental defect involving upper limb malformations and cardiac defects. Mutations in the TBX5 gene, located on chromosome 12q24.1, were demonstrated as the underlying molecular defect in several families with this disorder. We report on two unrelated families with HOS. Affected members of both families have the same truncation mutation in exon 5 of the TBX5 gene (Y136X). This mutation has not been reported before in HOS. The spectrum of defects is similar in both families, displaying an ASD, hypoplastic deltoid muscles and hypoplastic or absent thumbs extending to radial defects in one case. So far, only a single genotype-phenotype analysis in HOS has been done which is not sufficient to explain the high inter- and intrafamilial variability of expression. Our observation further supports that the position of the mutation in the TBX5 gene is related to the phenotype expression of HOS.

Abnormalities, Multiple↗
PubMed2005

Molecular genetic and ocular findings in patients with holt-oram syndrome.

PURPOSE: The autosomal dominant Holt-Oram syndrome (HOS) is characterized by upper limb and cardiac septal defects. Mutations of the TBX5 gene have been identified as the underlying gene defect in HOS. Embryonic expression of TBX5 has been found in the human retina. This is the first report of ocular findings in two unrelated families with mutations in the TBX5 gene. METHODS: Six living persons affected with HOS and 10 unaffected family members were subjected to mutation analysis and complete ophthalmological examination, including electrophysiological examinations (EOG and flash ERG). RESULTS: A heterozygous single base-pain substitution in exon 5 (408C --> A) was detected in all affected patients. All examined affected patents were ophthalmological asymptomatic with normal EOG. A scotopic elongated b-wave latency was found in affected family members who were older than 35 years. The ERG was normal in the young patients. CONCLUSIONS: Haploinsufficiency of TBX5 alters the dorsal-ventral polarity in developing eye vesicles without amy detected functional loss in human. Slight ERG abnormalities later in life may be a result of changes induced by the inner ganglion cell layer in the inner nuclear layer.

Adolescent↗