Abstract
We report a interesting case of antenatal diagnosis of achondrpoplasia in a young multigravida who presented with term pregnancy for routine ultrasound assessment which revealed a single, live intrauterine fetus with a discrepancy between femur length (FL) and biparietal diameter (BPD), narrowing of the interpeduncular distance. The diagnosis of achondroplasia was made with a sonological skeletal survey and findings were correlated with radiological skeletal survey after the baby was delivered. DOI: http://dx.doi.org/10.3329/bjms.v13i1.17443 Bangladesh Journal of Medical Science Vol. 13 No. 01 January2014: 84-87
Highlights
Complete antenatal sonological assessment revealed mildly enlarged calvarium, hypoplastic nasal bridge, disproportionate shortening of limbs with widened ends (Figure 1) and narrowing of the interpeduncular distance from proximal to distal in L1-L5, which are the characteristic features of achondroplasia
Antenatal diagnosis of achondroplasia shaped flattened vertebrae, broad and short pelvis, squared ileum, small sacrosciatic notch, horizontal acetabular roof, short long bones with metaphyseal widening, findings were consistent with achondroplasia (Figures 3a and 3b) The father denied for further evaluation which could have helped to evaluate the skull base in more detail
Plasma can be analyzed for the FGFR3 mutation in the mother when a short-limb skeletal dysplasia is diagnosed prenatally on ultrasound[16].This can be confirmatory for achondroplasia and can help the family to make educated decisions
Summary
Complete antenatal sonological assessment revealed mildly enlarged calvarium, hypoplastic nasal bridge, disproportionate shortening of limbs with widened ends (Figure 1) and narrowing of the interpeduncular distance from proximal to distal in L1-L5, which are the characteristic features of achondroplasia. Corresponds to: Dr Kanchan Dhungel, Department of Radiodiagnosis and imaging, B.P. Koirala Institute of Health Sciences, Dharan, Nepal. Antenatal diagnosis of achondroplasia shaped flattened vertebrae, broad and short pelvis, squared ileum, small sacrosciatic notch, horizontal acetabular roof, short long bones with metaphyseal widening, findings were consistent with achondroplasia (Figures 3a and 3b) The father denied for further evaluation which could have helped to evaluate the skull base in more detail.
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