Achondroplasia (ACH) (OMIM 100800) considered as most common short limbed dwarfism, caused by point mutation in gene coding for transmembrane portion of FGFR 3 receptors. One suspected of achondroplasia referred to genetic clinic with classical phenotype and X-ray findings. Instead of doing extensive molecular testing, point mutation in FGFR3 gene done and confirmed diagnosis. Pedigree showed multiple termination of pregnancies due to fear of recurrence and lack of knowledge. Being clinician it’s our responsibility to identify clinical condition and counsel about prognosis and recurrence risk. Since it has a high prevalence in community discussed in detail here.
Impact Factor
2022: 6.012
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