Results 171 to 180 of about 10,063 (203)
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Best Practice & Research 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.
Geneviève, Baujat +4 more
+6 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.
Geneviève, Baujat +4 more
+6 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
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia
New England Journal of Medicine, 2019Ravi Savarirayan +2 more
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Achondroplasia associated with pelvic lipomatosis
Lancet, The, 1999Hiroyuki Tanaka
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