ESPE Abstracts

Background: Achondroplasia is the most common form of human short-limbed dwarfism. The most serious complication in individuals with achondroplasia is narrowing of foramen magnum (FM) that results in cervicomedullary compression and sudden infant death. To avoid sudden infant death, early monitoring and implementation of the necessary medical intervention are important. However, the optimal method of screening for cervicomedullary compression continues to be debated.<p cla...

Background: Foramen magnum stenosis (FMS) is a common, serious complication of achondroplasia in infancy. The Achondroplasia Foramen Magnum Score (AFMS; 1-4) was developed to facilitate early detection of stenosis and inform appropriate neurosurgical management. All infants have a baseline screening MRI, of which approximately half of cases demonstrate AFMS3 (craniovertebral junction (CVJ) narrowing with flattening of the cervical cord) or AFMS4 (CVJ narrowing...

Background: Achondroplasia (ACH) is an autosomal dominant condition, resulting from pathogenic missense FGFR3 (fibroblast-growth-factor receptor-3) variants. Foramen magnum stenosis (FMS) is a severe complication, with infants and younger children being at higher risk. FMS may be asymptomatic or cause cervical-medullary compression (CMC), presenting with hydrocephalus, hypotonia or hypertonia, central sleep apnea and sudden death. The scope of the stu...

The identification of anamnestic, clinical and instrumental data indicative of pathological FMS plays a pivotal role in the prevention of ACH complications.Objective: identify key cranio-cervical junction(CCJ)neuroradiological features for the surgical choice and for the neuroradiological decompression outcome.Methods: from a total of 191 patients, we selected 24 subjects with ACH (age:<4years)...

Background: Achondroplasia is the commonest type of skeletal dysplasia with an incidence of 1 in 20,000 and is due to recurrent and dominantly transmitted, activating mutations in Fibroblast Growth Factor Receptor 3 (FGFR3). Complications during infancy include foramen magnum stenosis and hydrocephalus which may lead to neurological morbidity and sudden unexplained mortality. Early detection and appropriate neurosurgical management can prevent these complications. How...

Background: Achondroplasia is the most common cause of genetic dwarfism with a prevalence of 1/10 000 to 30 000 birth. It is a pathology of dominant inheritance linked to the mutation of the receptor gene growth factor on chromosome 4p16 fibroblastes FGFR3 responsable rhizomelic dwarfism and multiple complications likely to compromise the functional and vital prognosis of patients.Objective and hypotheses: Find the frequency of neurological complications...

Achondroplasia is the most common form of genetic disproportionate short stature or dwarfism with an incidence of 1 in 20 000. It is caused by a recurrent mutation (G380R) in FGFR3, which encodes the transmembrane protein fibroblast growth factor receptor type 3, activating the FGFR3 signalling pathway in the absence of its FGF ligand. This disrupts both endochondral and intramembranous ossification, causing a number of bone modelling abnormalities with secondary comp...

20 months old girl has frequent hypoglycemias, protruding forehead(frontal bossing), sunken bridge of the nose (saddle nose), and a blue tint to the whites of the eyes (blue sclerae). short limbs compared to the size of her torso, as well as small hands and feet, fragile thin hair,short limbs, Genu varum, Brachydactyly,malar falttening, motor delay, delayed teeth eruption, when plotted to growth chart height found far below the third centile for age,sex,population, Hre laborat...

Achondroplasia (Ach) is a skeletal disorder caused by gain-of-function mutations of FGFR3. Ach patients suffer from various complications such as short stature, foramen magnum stenosis and sleep apnea. Disease-specific treatment is not available at present, although some drugs including a C-type natriuretic peptide analogue have been developed. The mutated FGFR3, G380R, has an elevated activity of the receptor-associated tyrosine kinase, but G380R is further activated...

Background: Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant condition characterized by osteoporosis, acro-osteolysis, short stature and specific craniofacial features and is caused by mutations in the NOTCH2 gene which codes for a single-pass transmembrane protein that plays a critical role in skeletal development and bone remodelling. Syringomyelia has been reported in 5 of 75 reported cases of HCS worldwide. The mechanism for t...