Prenatal diagnosis of achondroplasia in primary care settings – recognising the soft markers: a case report

HIGHLIGHTS

  • What: Primary care practitioners play a vital role in identifying early signs of SD, such as discrepancies in growth parameters.
  • Who: Prenatal diagnosis et al. from the Department of MedicineOfficial Journal of the Academy of Physicians of Malaysia have published the Article: (TITLE), in the Journal: (JOURNAL)

SUMMARY

    Achondroplasia is a well-known cause of small stature with non-lethal skeletal dysplasia (SD) characterised by rhizomelic limb shortening. Achondroplasia can be inherited via autosomal dominant genetic transfer, but in most cases, it involves spontaneous mutations in the fibroblast growth factor receptor . . .

     

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