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Best Practice and Research in Clinical Rheumatology, 2008
Achondroplasia (MIM 100800) is the most common non-lethal skeletal dysplasia. Its incidence is between one in 10,000 and one in 30,000. The phenotype is characterized by rhizomelic disproportionate short stature, enlarged head, midface hypoplasia, short hands and lordotic lumbar spine, associated with normal cognitive development.
Genevieve Baujat +2 more
exaly +4 more sources
Achondroplasia (MIM 100800) is the most common non-lethal skeletal dysplasia. Its incidence is between one in 10,000 and one in 30,000. The phenotype is characterized by rhizomelic disproportionate short stature, enlarged head, midface hypoplasia, short hands and lordotic lumbar spine, associated with normal cognitive development.
Genevieve Baujat +2 more
exaly +4 more sources
, 2023 Tato bakalářská práce se věnuje genetickému onemocnění zvaném achondroplázie, historii jeho objevování, genetickému podkladu, klinickým projevům a diagnostice nemoci. V poslední kapitole je uvedeno léčivo pro achondroplázii a další návrhy na léčbu tohoto
Cynthia A. Riccio, Anita Sohn McCormick
core +3 more sources
Pediatrics In Review, 2019
This chapter reviews the incidence, recurrence risk, and etiology of achondroplasia, the most common skeletal dysplasia. This may be suspected by US in the late second trimester. The clinical features at birth are characteristic with macrocephaly, rhizomelic shortening and a trident hand. Radiographs can confirm the diagnosis. Molecular testing may not
Robin D. Clark, Cynthia J. Curry
+5 more sources
This chapter reviews the incidence, recurrence risk, and etiology of achondroplasia, the most common skeletal dysplasia. This may be suspected by US in the late second trimester. The clinical features at birth are characteristic with macrocephaly, rhizomelic shortening and a trident hand. Radiographs can confirm the diagnosis. Molecular testing may not
Robin D. Clark, Cynthia J. Curry
+5 more sources
Novel therapeutic approaches for the treatment of achondroplasia
Bone, 2020 International audienceAchondroplasia is the most common form of human dwarfism. The molecular basis of achondroplasia was elucidated in 1994 with the identification of the fibroblast growth factor receptor 3 (FGFR3) as the causative gene.
Ravi Savarirayan +1 more
exaly +2 more sources
The Lancet, 2007
Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwide. More than 95% of patients have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) and more than 80% of these are new mutations. The mutation, which causes gain of FGFR3 function, affects many
William A, Horton +2 more
openaire +2 more sources
Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwide. More than 95% of patients have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) and more than 80% of these are new mutations. The mutation, which causes gain of FGFR3 function, affects many
William A, Horton +2 more
openaire +2 more sources
The Journal of Bone and Joint Surgery. British volume, 1981
A thoracolumbar gibbus is an uncommon but potentially dangerous feature of achondroplasia. In a series of unselected South African Negro achondroplasts, nine out of 17 had an abnormality of this type. In contrast, only one girl out of 20 affected individuals of European or mixed ancestry had a gibbus.
P, Beighton, C A, Bathfield
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A thoracolumbar gibbus is an uncommon but potentially dangerous feature of achondroplasia. In a series of unselected South African Negro achondroplasts, nine out of 17 had an abnormality of this type. In contrast, only one girl out of 20 affected individuals of European or mixed ancestry had a gibbus.
P, Beighton, C A, Bathfield
openaire +2 more sources
American Journal of Medical Genetics, 1988
AbstractObesity 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.
Jacqueline T. Hecht +7 more
openaire +2 more sources
AbstractObesity 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.
Jacqueline T. Hecht +7 more
openaire +2 more sources