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ABSTRACT

ACHONDROPLASIA IN CHILDREN
AUTHOR: CLAUDIU TEODORESCU
CO-AUTHORS: IULIA-ANCA MARIAN
RAMONA-MIRABELA TUFII
REBECCA-CRISTIANA ERBAN
ALINA-TEFANIA POPA
SCIENTIFIC COORDINATORS: ASSOC. PROF. ILEANA PUIU MD, PhD
ASSOC. PROF. CARMEN NICULESCU MD, PhD
TEACH. ASSIST. VERONICA MARIA MD, PhD
TEACH. ASSIST. LAURA MARINU MD, PhD
Introduction
Achondroplasia, described by Dr. Parrot in 1879 is determined by the FGFR3 gene
mutation located on chromosome 4, gene encoding a growth factor receptor
fibroblast expressed in bone growth. Is the most common form of dwarfism.
Materials and Methods
The authors presents the case of a boy of 2 years 2 months, diagnosed at age of 6
months with achondroplasia; the diagnose was based on the clinical and radiological
manifestations. Biological tests, x-rays and CT were taken from the patient.
Results
The diagnosis was made on clinical characteristics and very specific features on
radiographs, which include contracted base of the skull, square shape of the pelvis
with a small sacrosciatic notch, short pedicles of the vertebrae. The biological tests
were all at a normal value.
Conclusion
Achondroplasia is an autosomal dominant disorder, and 65% of cases represent new
dominant mutations. The gene for achondroplasia has recently been found. Our case

shows the diagnostic methods of achondroplasia in children, the risks that the child
will have throughout life and a few treatment options.
Key words: Achondroplasia, x-ray, treatment, gene