1/849. Variable clinical expression of Holt-Oram syndrome in three generations.Holt-Oram syndrome is a distinct autosomal dominant entity presenting with upper limb defects and cardiac abnormality. No correlation between the severity of the heart and the limb defects has been established. Here we report variable clinical expression of Holt-Oram syndrome in three generations. The grandfather presented with typical upper limb defects: phocomelia of arms with three digits on each hand, congenital heart defect and narrow shoulders. His son manifested cardiac conduction disturbance with no congenital heart or skeletal defect. The granddaughter showed ventricular septal defect and moderate radial deviations of both hands with no obvious hypoplasia of the extremities. Clinical data of the presented family suggests lack of penetrance with respect to skeletal and structural cardiac abnormalities in the Holt-Oram syndrome.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
2/849. monosomy 18q syndrome and atypical rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).We describe a 6 1/2-year-old girl with an interstitial deletion of chromosome arm 18q (18q21.1q22.3). Her clinical manifestations are a combination of those found in monosomy 18q syndrome and those of rett syndrome. cytogenetic analysis demonstrated a deletion of the long arm of chromosome 18, defined by molecular analysis with polymorphic markers as a de novo interstitial deletion, paternally derived. The findings typical of the 18q- syndrome included mental retardation, midface hypoplasia, and hypoplasia of labia majora, and those typical of rett syndrome were severe mental retardation, autistic behavior, inappropriate hand-washing movements, epilepsy, attacks of sighing and hyperventilation, and progressive scoliosis since the age of 5 years. She did not have microcephaly, and the mental delay was obvious from an early age without a period of normal development, which makes the diagnosis of rett syndrome atypical. Previously, a girl with mosaicism for a monosomy 18q associated with rett syndrome has been described. That girl had a terminal deletion of chromosome 18q, which seems to coincide in part with that in the present girl. It is possible that genes in the distal region of 18q are involved in the etiology of rett syndrome.- - - - - - - - - - ranking = 0.5keywords = hand (Clic here for more details about this article) |
3/849. Pseudocapsulorrhexis in a patient with iridocorneal endothelial syndrome.We describe a patient with Chandler's syndrome variant of the iridocorneal endothelial syndrome in whom ectopic Descemet's membrane was found intraoperatively on the anterior surface of the lens. Initially, the membrane was confused with the anterior lens capsule during extracapsular cataract extraction, leading to the performance of a pseudocapsulorrhexis. Electron microscopy disclosed that the epilenticular membrane was composed of multiple layers of abnormal basement membrane consistent with the iridocorneal endothelial syndrome.- - - - - - - - - - ranking = 0.5keywords = hand (Clic here for more details about this article) |
4/849. hypercalciuria and urolithiasis in a case of costello syndrome.costello syndrome is characterized by postnatal growth deficiency, mental retardation, curly hair, coarse characteristic face, and loose skin of hands and feet. patients with this syndrome have a high incidence of cardiac involvement, including arrhythmia, atrial septal defect, and hypertrophic cardiomyopathy. We report a 16-year-old adolescent female with costello syndrome who presents with hypercalciuria and urolithiasis.- - - - - - - - - - ranking = 0.5keywords = hand (Clic here for more details about this article) |
5/849. Callosal disconnection syndrome in a left-handed patient due to infarction of the total length of the corpus callosum.We report on a left-handed patient with an ischemic infarction affecting exclusively the total length of the corpus callosum. This lesion clinically correlated with an almost complete callosal disconnection syndrome as described in callosotomy subjects, including unilateral verbal anosmia, hemialexia, unilateral ideomotor apraxia, unilateral agraphia, unilateral tactile anomia, unilateral constructional apraxia, lack of somesthetic transfer and dissociative phenomena. Despite the patient's left-handedness, his pattern of deficits was similar to the disconnection syndrome found in right-handers. Our report focusses on motor dominance and praxis. We followed-up the improvement in left apraxia and investigated the ability to initiate and learn a new visuo-motor skill. The results permit two tentative assumptions: (1) that the improvement in left apraxia was due to a compensatory increase in ipsilateral proximal muscle control, and (2) that motor dominance, i.e. the competence to initiate and learn a new movement pattern, was hemispherically dissociable from manual dominance in the sense of praxis control.- - - - - - - - - - ranking = 3.5keywords = hand (Clic here for more details about this article) |
6/849. Ocular changes in mucopolysaccharidosis iv A (Morquio A syndrome) and long-term results of perforating keratoplasty.BACKGROUND: The mucopolysaccharidoses (MPS) are an inhomogeneous group of disorders of errors in the carbohydrate metabolism with severe ocular involvement (corneal opacification, retinal degeneration, optic atrophy). PATIENT PRESENTATION: We report on a boy aged 12 years, with Morquio A (MPS IV A) syndrome. Ocular findings: progressive pseudoexophthalmus due to shallow orbits, increasing corneal stromal clouding, intermittent dissociated manifest nystagmus of the left eye, nyctalopia. visual acuity OD cc = 0.16, OS cc = 0.05. electrophysiology: changes suggesting a symptomatic tapetoretinal degeneration and optic atrophy. TREATMENT AND COURSE OF disease: OS: perforating keratoplasty. Postoperative improvement of visual acuity to 0.25 for nearly a year, followed by progressive reopacification of the corneal graft. Both eyes: progressive signs of tapetoretinal degeneration and optic atrophy. visual acuity now reduced to OD 0.05, OS 0.1. CONCLUSIONS: Success of a keratoplasty is limited by (1) reopacification of the cornea, (2) visual impairment due to (a) retinal degeneration and (b) optic atrophy. The indication for perforating keratoplasty has to be thought about very carefully in these multimorbid patients. In our patient, beside progressive visual impairment there is a progressive deafness which dominates his social and school life. Attending school is severely complicated by the double handicap. Perforating keratoplasty enabled the boy to attend a school for physically handicapped without a special low-vision care for another year. Progressive visual loss without further treatment options now renders optical and electronic low-vision aids necessary. Although the time of improved visual acuity lasted less than a year, we think patients with a life expectancy of less than 20 years should have every possible improvement of their situation - even if it does not last permanently. We therefore propose perforating keratoplasty in spite of insufficient long-term results.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
7/849. Rowell's syndrome.Rowell's syndrome is the name given to a distinct group of patients with lupus erythematosus who develop erythema multiforme-like lesions and have a characteristic serological picture. We report a case of a 29-year-old woman of Afro-Caribbean origin who presented with an erythema multiforme-like eruption on the hands. Subsequently she developed painful erythematous swellings on the feet and scaly plaques on the forearm and thigh consistent with subacute cutaneous lupus. She developed a positive antinuclear factor and had positive anti-Ro and anti-La antibodies and a positive rheumatoid factor. All of these features are consistent with Rowell's syndrome which we believe is a rare but distinct variant of cutaneous lupus erythematosus.- - - - - - - - - - ranking = 0.5keywords = hand (Clic here for more details about this article) |
8/849. Wrinkly skin syndrome: ultrastructural alterations of the elastic fibers.We report the clinical and pathologic features of a patient with wrinkly skin syndrome. The essential clinical features were wrinkly skin with poor elasticity over the abdomen and on the dorsum of the hands and feet, increased palmar and plantar creases, and a prominent venous pattern over the chest. On light microscopy, histopathologic findings included appreciable heterogeneity in the structure, amount, and distribution pattern of elastic fibers. agglutination and fragmentation of the microfibrillar component and a remarkable decrease in elastin were the major ultrastructural features. The differential diagnosis with other connective tissue disorders is discussed.- - - - - - - - - - ranking = 0.5keywords = hand (Clic here for more details about this article) |
9/849. Laugier-Hunziker syndrome: case report and treatment with the Q-switched Nd-Yag laser.We report the case of a 46-year-old Caucasian female presenting with mucocutaneous pigmentation on the lips, oral mucosa, hands, feet and nails, as well as on a psoriatic plaque. She was successfully treated with Q-switched Nd-Yag laser, with double frequency, for both the mucosal and cutaneous lesions.- - - - - - - - - - ranking = 0.5keywords = hand (Clic here for more details about this article) |
10/849. Juvenile neuroaxonal dystrophy: clinical, electrophysiological, and neuropathological features.We describe 2 brothers with progressive myoclonus epilepsy that began in the second decade and was associated with cerebellar ataxia and intellectual deterioration. Electroencephalographic and cerebral evoked potential studies showed findings associated with myoclonus epilepsy. Neuropathological examination of 1 of the brothers, who died at age 23 years, revealed widespread changes of neuroaxonal dystrophy without pigment deposition in the basal ganglia. We propose the term juvenile neuroaxonal dystrophy (JNAD) to distinguish this condition on clinical grounds from infantile neuroaxonal dystrophy on the one hand, and on clinical and pathological grounds from Hallervorden-Spatz disease on the other hand. JNAD, while exceedinly rare, must be considered in the differential diagnosis of the progressive myoclonus epilepsies.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
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