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Results for “Hand Deformities”

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At least 901 records · Page 50Linked to original sources
PubMed1994

Congenital varicella syndrome: studies of the virus-specific humoral and cell-mediated immune responses.

We describe a three-year-old boy with congenital varicella syndrome. Persistent IgG antibodies to varicella-zoster virus (VZV) were detected in the child's sera for a period of more than three years. Immunological studies performed at three months and at three years of age showed a VZV-specific cellular immune response. The results suggest that intrauterine VZV infections in early pregnancy can induce adequate humoral and cellular immune reactions in the infected foetus.

Abdominal Muscles↗
PubMed1978

Cryptophthalmos, dyscephaly, syndactyly and renal aplasia. Report of a case.

A danish girl with incomplete, bilateral cryptophalmos together with assoicated craniofacial malformations, laryngeal hypoplasia, syndactyly, unilateral renal aplasia and slight external genital abnormalities is reported. Chromosomal abnormalities or metabolic disorders were not demonstrated. As the condition is extremely rare, some clinical and pathological fingings previosuly described in analogous cases are mentioned, together with a few pathogenetic mechanisms. Finally, a discussion regarding the aetiology of the condition is presented. Most authors are convinced that the malformative pattern is a syndrome with an autosomally recessive genetic basis. Added envronmental influence explains the wide range of manifestations and the varying gene expressivity.

Abnormalities, Multiple↗
PubMed2006

Validation of the ABILHAND questionnaire as a measure of manual ability in patients with rheumatoid arthritis.

OBJECTIVE: Hand and upper limb involvement is common in patients with rheumatoid arthritis (RA). However, its impact on manual activities of daily life has not been fully evaluated. A measure of manual ability was developed, through the Rasch measurement model, by adapting and validating the ABILHAND questionnaire, which measures the patient's perceived difficulty in performing everyday manual activities. METHODS: 112 patients with RA were evaluated. The following tests were performed: the ABILHAND questionnaire, the Health Assessment Questionnaire (HAQ), the Jamar grip and key pinch strength tests, the Box and Block dexterity test and the Purdue pegboard dexterity test. In total, 35 patients were reassessed to determine the test-retest reliability of the ABILHAND, and 6 patients were studied before and after therapy with tumour necrosis factor (TNF) blockers to address sensitivity to change. RESULTS: The Rasch refinement of the ABILHAND led to a selection of 27 items rated on a 3-point scale. The resulting ability scale was targeted to the ability of the patients. The item-difficulty hierarchy was stable across demographic and clinical subgroups and over time. Grip and key pinch strength and manual and digital dexterity on both hands were significantly, though moderately, correlated with the ABILHAND measures. Manual ability was also significantly related to the number of affected hands, disease duration, tender and swollen joint counts on upper limbs, disease activity and the HAQ. Sensitivity to change was demonstrated in patients treated with TNF blockers, commensurate with their clinical improvement. CONCLUSION: The ABILHAND questionnaire is a clinically valid person-centred measure of manual ability that could be useful in longitudinal RA studies.

Activities of Daily Living↗
PubMed1992

Dermochondral corneal dystrophy (of François).

Dermochondral corneal dystrophy (of François) has been reported rarely in the literature. It consists of a triad of findings characterised by the development of skin nodules, acquired deformities of the extremities, and a corneal dystrophy. The corneal dystrophy is central and superficial with whitish subepithelial opacities. We present two brothers who display previously unreported ocular findings. Specifically, they developed confluent opacification of their central corneas with anterior stromal involvement, and peculiar anterior cortical cataracts. These findings should be added to the spectrum of findings seen in this rare disorder.

Adult↗
PubMed2003

Musculoskeletal manifestations of diabetes mellitus.

Rheumatic complaints are common in patients with diabetes. Maintaining good glycaemic control by exercise, diet, and medication improves or prevents the development of rheumatic conditions.

Arthropathy, Neurogenic↗
PubMed1990

Yunis-Varon syndrome with severe osteodysplasty.

We report two male sibs and two female sibs from separate families, both with normal parents, who had a lethal condition with features of the Yunis-Varon syndrome and radiological signs of severe osteodysplasty. Autosomal recessive inheritance is likely in both families. The additional features described represent further delineation of the phenotype of the Yunis-Varon syndrome.

Bone Diseases, Developmental↗
PubMed1990

EEC syndrome without ectrodactyly: report of two new families.

In this report we describe two families with variable manifestations of the EEC syndrome. The findings in these families confirm that no symptom is obligatory for the diagnosis of EEC syndrome. In the absence of cleft lip/palate, EEC patients have a characteristic facial morphology with maxillary hypoplasia, short philtrum, and broad nasal tip.

Adult↗
PubMed1991

Postaxial acrofacial dysostosis (Miller) syndrome: a new case.

We describe a new case of postaxial acrofacial dysostosis (Miller) syndrome. This syndrome consists of mandibulofacial dysostosis, similar to that seen in Treacher Collins syndrome, and postaxial limb deficiency. The mode of inheritance remains uncertain.

Abnormalities, Multiple↗
PubMed1993

Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.

A mother and daughter are reported with apparently dissimilar syndromes. The mother has a split hand/split foot deformity and the daughter a condition consistent with a diagnosis of LADD syndrome. Absence of clefting and deficient formation of saliva and tears are the main signs that differentiate the LADD from the EEC syndrome. However, no distinct feature is constant between these two autosomal dominant disorders that show great phenotypic variability. This report emphasises the overlap between the LADD and the EEC syndromes.

Abnormalities, Multiple↗
PubMed1995

Pfeiffer type cardiocranial syndrome: a third case report.

Pfeiffer-type cardiocranial syndrome is a rare condition reported previously in three patients, two of whom were sibs. All three patients shared features that included growth and developmental retardation, sagittal synostosis, hypertelorism, low set ears, micrognathia with mandibular ankylosis, congenital heart defects, and genital anomalies. The purposes of this report are to present a fourth patient with features of the Pfeiffer-type cardiocranial syndrome, to expand the clinical phenotype of this condition, and to present evidence that supports the concept that this phenotype represents a distinct nosological entity.

Abnormalities, Multiple↗