The case of a newborn male with trisomy 18 syndrome, having bilateral syndactyly, aplasia and hypoplasia of the foot digits, unilateral ectrodactyly of the left foot and a prominently dorsiflexed hallux, clenched hand with overlapping fingers and general hypertonia, is presented. There are only 5 cases of trisomy 18 syndrome associated with ectrodactyly in the literature. We present a case of t...

BACKGROUND Dopa responsive dystonia is characterized by progressive disabling dystonia, diurnal variation and a dramatic response to Levodopa. CASE CHARACTERISTICS Two siblings presented with regression of motor milestones and hypertonia in lower limbs. History of diurnal variation was present in elder sibling. OUTCOME Both responded dramatically to Levodopa. The genomic DNA analysis of eld...

Two cases of 14q proximal partial trisomy in sisters from the same family are reported. Clinical features included craniofacial dysmorphism, skin depigmentation, slight anomalies of the limbs, muscular hypertonia, and physical and mental retardation. The third sister had an abnormal phenotype, different from that of her sibs, and proved to be a carrier of a balanced translocation (2;14)(q36;q21...

nystagmus, dislocation of the left lens in the vitreous humour, and multiple retinal atrophic lesions were also found. An IQ of 49 was found on the Wechsler adult intelligence scale.4 The neurological clinical examination showed cerebellar ataxia with limb and truncal ataxia and ataxic gait; also in this patient, mild hypertonia of the lower limbs, brisk tendon reflexes, and Babinski's sign on ...

Dry needling for hypertonia and spasticity (DNHS) is a technique used for decreasing hypertonia and spasticity and for the improvement of function in patients with damage to the central nervous system. There is limited evidence supporting the effectiveness of this technique on the basis of objective assessments. The aim of the present case report was to quantify the effects of dry needling (DNH...