achondroplasia/obesity

Obesity is a significant and potentially serious health problem in achondroplasia. Body mass indices, weight-to-square of the height ratio (W/H2), and triceps skinfold measurements show that obesity is common. It begins in early childhood and is prevalent at all ages. We recommend that weight be

Achondroplasia is a rare genetic disease representing the most common form of short-limb dwarfism. It is characterized by bone growth abnormalities that are well characterized and by a strong predisposition to abdominal obesity for which causes are unknown. Despite having aroused interest at the end

Achondroplasia is a rare genetic disease is characterized by abnormal bone development and early obesity. While the bone aspect of the disease has been thoroughly studied, early obesity affecting approximately 50% of them during childhood has been somewhat neglected. It nevertheless represents a

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

There are virtually no data regarding appropriate oral intake in infants with dwarfing disorders such as achondroplasia, nor is there clear information regarding appropriate weight gain velocity in this population. Yet, these individuals are at increased risk for both early failure to thrive and,

Obesity is a widespread and potentially serious health problem in individuals with achondroplasia. In addition to obesity, such individuals commonly experience lumbar spinal stenosis. Although laminectomies have long been the method of choice for thorough lumbar decompression, to the best of our

A young woman with achondroplasia and morbid obesity (two disabling conditions) is presented. She underwent open Roux-en-Y gastric bypass (RYGBP). We emphasize preoperative preparation by a multidisciplinary team and the use of the 6-minute walk test to follow and assess mobility and quality of

The status of growth hormone (GH) secretion together with the effect of GH therapy was studied in six children with achondroplasia. One patient had impaired GH secretion, which may, in part, be due to obesity. The pre-GH-treatment height velocity was 3.8 +/- 0.7 cm/year, but this increased to 6.0

The normal profile for overnight GH secretion in achondroplasia has not been previously studied. Factors that have been shown to influence GH secretion include age, obesity, sleep state, and the presence of obstructive sleep apnea (OSA). We assessed GH levels in a group of subjects with

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

Individuals with achondroplasia have a high prevalence of obesity and increased risk of cardiovascular disease. Fat distribution, diet, and caloric intake are known risk factors, but the literature concerning diet and energy balance in achondroplasia is limited. The main aim of this study was to

Acanthosis nigricans (AN) in those with achondroplasia has been reported occasionally in the literature previously. Other disorders arising from constitutive activation of FGFR3 also manifest AN at various frequencies. We assessed the prevalence of AN in a sequential series of 477 individuals with

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

Standard curves developed for the general population cannot be used to assess the growth of an individual who has a condition that results in disproportionate short stature. For this reason, efforts have been made to develop growth curves specific for several of the chondrodysplasias. However, data

Achondroplasia is an autosomal dominant disorder, the most common genetic cause of short stature in humans. Reference curves for head circumference, weight, height, and BMI are needed in clinical practice but none exist for the Australian population. This study aimed to produce head circumference,