Wan Fadzleen Ezyani Mohd Fudzi, Yaacob Lili Husniati, Abdul Rahman Razlina, Lau Chiew Chea
MBBS, MMed (Family Medicine), Department of Family Medicine, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia. Email:
MBBS, MMed (Family Medicine), Department of Family Medicine, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.
Malays Fam Physician. 2024 Nov 30;19:66. doi: 10.51866/cr.698. eCollection 2024.
Achondroplasia, a genetic disorder causing limb shortening, is the most common form of disproportionate dwarfism. It can be diagnosed prenatally through sonographic findings and postnatally through clinical and radiological findings. Currently, an increasing number of affected foetuses are diagnosed antenatally since prenatal ultrasonography is routinely conducted in primary care settings. Herein, we present the case of a healthy 26-year-old primigravida who received a diagnosis of achondroplasia for her foetus during the late third trimester based on her prenatal ultrasonographic findings. Following birth, the diagnosis was confirmed by the baby's clinical and radiological findings, which showed shortening of the long bones. This case highlights the importance of recognising the soft markers of achondroplasia during routine third-trimester ultrasonography in primary care settings. Early diagnosis of achondroplasia is important to ensure timely referral to tertiary centres and adequate preparation of parents for the delivery of their baby.
软骨发育不全是一种导致肢体短小的遗传性疾病，是最常见的非匀称性侏儒症形式。它可以在产前通过超声检查结果进行诊断，在产后通过临床和放射学检查结果进行诊断。目前，由于初级保健机构常规进行产前超声检查，越来越多受影响的胎儿在产前被诊断出来。在此，我们报告一例健康的26岁初产妇病例，她在孕晚期基于产前超声检查结果被诊断出胎儿患有软骨发育不全。婴儿出生后，通过其临床和放射学检查结果证实了诊断，结果显示长骨缩短。该病例突出了在初级保健机构进行常规孕晚期超声检查时识别软骨发育不全软指标的重要性。软骨发育不全的早期诊断对于确保及时转诊至三级中心以及让父母为婴儿分娩做好充分准备非常重要。
