the clinical and phenotypic features of two siblings (a 12 years old girl and her 7 year old brother) with cockayne syndrome are described. the main problems were mild to moderate mental retardation, dwarfism, clumsy gait, photosensitive skin lesions and progeroid (senile like) appearance. brain ct - scans revealed symmetrical, well defined areas of calcification mainly located at lenticular nu...

Mice are excellent experimental models for genetic research and are being used to investigate the genetic component of organismal aging. Several mutant mice are known to possess defects in the growth hormone/insulin-like growth factor 1 (GH/IGF-1) neurohormonal pathway and exhibit dwarfism together with extended life span. Their phenotypes resemble those of mice subjected to caloric restriction...

There are more than 100 different types of dwarfism. Achondroplasia is the commonest form of dwarfism is associated with several bony changes in face, neck, spine, and can also have neurological and cardiopulmonary complications . Thus it presents several challenges to the anaesthesiologist as selecting anaesthetic technique. The aim of this report is to describe the anaesthetic consideration a...

OUR interest in neonatal dwarfism was aroused by the presentation of a deformed neon ate with short upper limbs and flapper-like lower limbs. We were unable to diagnose that baby. That was three years ago, since then we have seen one case of short rib polydactyly syndrome, one case of chondrodysplasia puncta or Conradi's disease and one of neonatal osteopetrosis. Our most recent addition is a c...

Bioactive gibberellins (GAs) are essential endogenous regulators of plant growth. GA signaling is mediated via GAI, a nuclear member of the GRAS family of plant transcription factors. Previous experiments have suggested that GAI is a GA-derepressible repressor of plant growth. Here we test this hypothesis by examining the effects of the expression of Arabidopsis GAI in transgenic Basmati rice. ...

The axiom that diagnosis must precede treatment holds true for the management of short stature. What matters is the current rate of growth and the potential for further growth; it is essential to measure accurately the rate of gain in height and the radiological bone age. Early detection of subnormal rate of growth can lead to prevention of dwarfism, but a dwarf with epiphyses closed is beyond ...

Ellis-van Creveld syndrome also known as chondroectodermal dysplasia or mesoectodermal dysplasia; a rare genetic disorder of the skeletal dysplasia. 'Six-fingered dwarfism' (digital integer deficiency) was an alternative designation used for this condition when it was being studied in the Amish. It is characterized by short-limb dwarfism, polydactyly, malformation of the bones of the wrist, dys...

AIMS This study was set up to determine the long term ocular and systemic sequelae in patients with severe congenital toxoplasmosis. METHODS Cross sectional and retrospective study of 17 patients with severe congenital toxoplasmosis. RESULTS In addition to chorioretinitis (100%), the most common abnormal ocular features were optic nerve atrophy (83%), visual acuity of less than 0.1 (85%), s...

Cockayne's syndrome (CS) is a rare autosomal recessive disorder with dwarfism, mental retardation, and otherwise clinically heterogeneous features. In cultured CS fibroblasts, the failure of RNA synthesis to recover to normal rates after UV-C irradiation provides a useful and relatively simple diagnostic test. We have measured post-UV-C RNA synthesis in 52 patients for whom a clinical diagnosis...