Hecht JT, Bodensteiner JB, Butler IJ; Neurologic manifestations of achondroplasia
Health supervision for children with achondroplasia
Among the nearly 20 representations of genetic disease and congenital malformations detected in the ceramic artifacts from the populations of the Tumaco-La Tolita culture (5-7), based on medical and iconographic evaluation, achondroplasia
appears as a relatively frequent monogenic alteration (8, 9).
Specific health issues faced by individuals with achondroplasia
Atypical radiological findings in achondroplasia
with uncommon mutations of the FGFR3 gene (Gly to Cys at codon 375).
By the time they started school, their achondroplasia
was starting to show.
Key Words: lumbar puncture, dural puncture, achondroplasia
, leukaemia, paediatric, magnetic resonance imaging, spinal stenosis
But some older fathers did have an increased risk of having children with achondroplasia
, and according to the published results, "a small fraction of men are at increased risk for transmitting multiple genetic and chromosomal defects.
My son has a condition called achondroplasia
, which is a form of dwarfism that affects the long bones of the body (arms and legs).
Lezcano's arms and legs are short and his forehead and nose are prominent features; those physical characteristics are those of achondroplasia
which is also called short limb dwarfism.
The muscles of the lower leg were studied before, during, and after leg lengthening in 38 patients with achondroplasia
and in 32 patients with congenital leg length discrepancy.
Because the skeletal manifestations of achondroplasia
usually only become apparent on ultrasound between 18 and 22 weeks' gestation, in cases where one or both parents have genetic prevelance of the disorder, chorionic villous sampling may aid in the diagnosis during the first trimester.