osteochondrodysplasias/obesity

Routine prenatal ultrasound of a massively obese mother at 21 weeks of gestation revealed short-limb dwarfism in the fetus. The proportionate shortening of tubular bones of about 50 per cent of the normal length, the absence of thoracic dysplasia, and a normal head circumference narrowed the

Hypertension, compounded by obesity, contributes to cardiovascular disease and mortality. Data describing hypertension prevalence in adults with short stature skeletal dysplasias are lacking, perhaps due to poor fit of typical adult blood pressure cuffs on rhizomelic or contracted upper extremities.

OBJECTIVE Achondroplasia is the most common form among the different types of osteochondrodysplasia that cause dwarfism. Dwarves develop obesity quite frequently and surgical treatment has shown greater efficacy, both for effective weight loss and long term maintenance. The objective of this report

A large amount of research, primarily in mammals, has defined to a great extent the pleiotropic effects of the IGF system on growth, development, and intermediary metabolism. Similar elucidations in poultry were hindered to some extent by the absence of native peptides (IGF-I and IGF-II) until their

OBJECTIVE To develop a profile of impairment and activity limitation among children with epiphyseal dysplasia (ED) and to identify the relationship between these 2 domains. METHODS Cross-sectional study. METHODS Acute, pediatric academic and health sciences center. METHODS Eleven subjects with

A biomechanical model of endochondral ossification (Frost and Jee, 1994. Anat. Rec., 240:435-446) can help to explain: (1) some differences in fracture patterns in children and adults, (2) increased fractures during the human adolescent growth spurt, (3) localization of stress fractures and

Microcephalic osteodysplastic primordial dwarfism syndrome II (MOPDII) is microcephalic primordial dwarfism and is a very rare form of disproportionate short stature. This disorder shares common features with other forms of microcephalic primordial dwarfism, including severe prenatal and postnatal

Achondroplasia is a rare genetic disorder recognized as the most common primary skeletal dysplasia in humans. This form of dysplasia accounts for greater than 90% of cases of disproportionate short stature, also known as dwarfism. The term “achondroplasia” was first used in 1878 to distinguish it

1. Males from three broiler breeder experiments were examined to determine the incidence of musculo-skeletal lesions (destructive cartilage loss, dyschondroplasia and its sequelae, ruptured tendons and ligaments) in birds culled for low fertility and in males surviving to the end of the breeding

Two Shetland Sheepdogs that did not have a history of trauma were referred because of a gradual onset of lameness in the hind limbs. Bilateral slipped capital femoral epiphysis was diagnosed. Separation of the proximal femoral epiphysis that is not associated with trauma is recognized as a distinct

Clinical characteristics: The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal

Clinical characteristics: Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and

The INPPL1 (inositol polyphosphate phosphatase-like 1) gene encodes the inositol phosphatase, SHIP2 (for src homology 2 domain-containing inositol phosphatase 2). SHIP2 functions to dephosphorylate, and negatively regulate, the lipid second messenger phosphatidylinositol (3,4,5)P3. SHIP2 has been