Dwarfism

Introduction

A dwarf is a short person approximately 1.25 m in adulthood. More than 200 separate tables can cause dwarfism. A single type, called achondroplasia, causes about 70 percent of all types of dwarfism. Achondroplasia is a genetic disease affecting approximately 1 in 25,000 people. The arms and legs are short compared to the head and trunk. Other genetic conditions, kidney disease and metabolic or hormonal problems can also cause short stature. Today achondroplasia is the most common form of dwarfism, and approximately el80% and 90% of children who suffer from families with normal stature. In this regard, geneticists explain that for many reasons unknown, an alteration or mutation in the gene responsible for controlling the proper development of bones, but when a family history of the disease have the following chances of conceiving a child with dwarfism:

It is a congenital abnormality, and may be defined as a developmental defect of the body shape. Congenital musculoskeletal abnormalities vary considerably in extent and severity and can be localized and unilateral clubfoot or generalized, as in osteogenesis (brittle bones). The most remarkable feature of achondroplasia and can be detected even infant is dwarfism characterized by short limbs, and these disproportionately shorter than the trunk.

Discussion

The achondroplasia, the most common form of congenital dwarfism, is a condition characterized by a mutation in the gene encoding fibroblast growth factor receptor type 3 (fgfr3) in the cartilage cells, chondrocytes. The amendment most common cause of this disorder is replacing a gly by arg 380 in the position that corresponds with the trans-membrane domain of the recipient (Ablon, Pp: 10-58). This change of amino acid produced in the receiver stabilization of dimer, prerequisite for the activation of the receptor and that led him to be activated events in the absence of agonist. The receiver on active fgfr3 involves the alteration of the maturation process of chondrocytes, favoring a quick ossification which prevents proper bone growth (Nicoletti, Pp: 99-105). There are several cellular signaling pathways that appear to be involved in mediating the effects fgfr3 receptor, including the route are signaling or stat signaling cascade of map (Ablon, Pp: 101-36). When we speak of achondroplasia we are referring to a disorder affecting children in bone growth causing the most common type of dwarfism . In these particular cases the body suffers from chondrodystrophies or osteochondrodysplasias. In the case of achondroplasia is a defective gene that is inherited by a parent. If parents with achondroplasia there is a 50 percent chance that children suffer the same problem. The most common symptoms are: foot arch, lack of muscle tone, head size much larger than the rest of the body, prominent forehead, short limbs and short stature. People with this disorder it measure up to more than 1.52 meters, with a completely normal mental development. The small receiving the gene defective in both of their parents, unfortunately, will not survive more than a few months. To detect this problem should be performed prenatal ultrasound which detects the presence of excess amniotic fluid. We may also make the small review once they are ...