Analysis of information sources in references of the Wikipedia article "Achondroplasia" in English language version.
Ultrasound findings of achondroplasia are generally not apparent until 24 weeks of gestation and are often quite subtle.
The postnatal diagnosis of achondroplasia is fairly straightforward. A combination of key clinical (that is, macrocephaly, short limbed-short stature with rhizomelia and redundant skin folds) and radiographic (that is, characteristic pelvis with short and square ilia, narrow sacro-sciatic notches and narrowing interpedicular distances in the lumbar vertebral spine progressing from L1 to L5) features enables accurate diagnosis in most people with achondroplasia.
Spinal thoracolumbar kyphosis (gibbus) in infants with achondroplasia is common but should resolve when the child begins to mobilize.
One therapy offered to ACH patients is treatment with recombinant human growth (r-hGH) (approved today only in Japan).
Although evidence in this area is scarce, limb lengthening is advised in some countries and not recommended in others. ... The timing of limb lengthening varies and has been performed from early childhood to adult life in individuals with achondroplasia.
Introducing parents to advocacy and support groups has been proven beneficial.
Ultrasound findings of achondroplasia are generally not apparent until 24 weeks of gestation and are often quite subtle.
The postnatal diagnosis of achondroplasia is fairly straightforward. A combination of key clinical (that is, macrocephaly, short limbed-short stature with rhizomelia and redundant skin folds) and radiographic (that is, characteristic pelvis with short and square ilia, narrow sacro-sciatic notches and narrowing interpedicular distances in the lumbar vertebral spine progressing from L1 to L5) features enables accurate diagnosis in most people with achondroplasia.
Spinal thoracolumbar kyphosis (gibbus) in infants with achondroplasia is common but should resolve when the child begins to mobilize.
One therapy offered to ACH patients is treatment with recombinant human growth (r-hGH) (approved today only in Japan).
Although evidence in this area is scarce, limb lengthening is advised in some countries and not recommended in others. ... The timing of limb lengthening varies and has been performed from early childhood to adult life in individuals with achondroplasia.
Introducing parents to advocacy and support groups has been proven beneficial.
Ultrasound findings of achondroplasia are generally not apparent until 24 weeks of gestation and are often quite subtle.
The postnatal diagnosis of achondroplasia is fairly straightforward. A combination of key clinical (that is, macrocephaly, short limbed-short stature with rhizomelia and redundant skin folds) and radiographic (that is, characteristic pelvis with short and square ilia, narrow sacro-sciatic notches and narrowing interpedicular distances in the lumbar vertebral spine progressing from L1 to L5) features enables accurate diagnosis in most people with achondroplasia.
Spinal thoracolumbar kyphosis (gibbus) in infants with achondroplasia is common but should resolve when the child begins to mobilize.
One therapy offered to ACH patients is treatment with recombinant human growth (r-hGH) (approved today only in Japan).
Although evidence in this area is scarce, limb lengthening is advised in some countries and not recommended in others. ... The timing of limb lengthening varies and has been performed from early childhood to adult life in individuals with achondroplasia.
Introducing parents to advocacy and support groups has been proven beneficial.
