Judith Allanson

TL;DR: The NSSG convened a conference of health care providers, all involved in various aspects of NS, to develop guidelines for use by pediatricians in the diagnosis and management of individuals with NS and to provide updated genetic findings.

TL;DR: Introduction Measurement Proportional growth and normal variants Height and length Weight Head circumference Craniofacies Limbs Chest and trunk Genitalia Skin and hair Dermatoglyphics and trochoglyphs Use of radiographs for approach to the child with a dysmorphic syndrome.

TL;DR: The clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness.

TL;DR: The author revealed that the most common cause of death in children with Down's syndrome is neonatal encephalopathy, a condition known as “eternal youth’s syndrome”.

TL;DR: It is found that filamin B is expressed in human growth plate chondrocytes and in the developing vertebral bodies in the mouse, indicating an unexpected role in vertebral segmentation, joint formation and endochondral ossification for this ubiquitously expressed cytoskeletal protein.