Fetal micromelia, thoracic dysplasia and polydactyly revisited: A case-based antenatal sonographic approach

Abstract

Introduction Skeletal dysplasia is a condition associated with various abnormalities of the skeleton and comprises multiple groups of disorders. Antenatal ultrasonographic assessment of the skeletal dysplasia requires a robust and systematic assessment of the long bones, fetal thorax, skull, spine, pelvis, hands and the feet. Large number of diseases, their overlapping phenotypic features and the lack of systematic approach lead to diagnostic inefficiency. A precise molecular diagnosis also requires an elaborate antenatal sonographic assessment to reach a final diagnosis. Case report A fetus with micromelia, thoracic dysplasia and polydactyly was detected on prenatal sonography. An algorithmic approach of this rare combination on prenatal sonography is highlighted. Discussion Fetal micromelia is a relatively common entity which can be subclassified into mild and severe types. The lethal nature of the condition requires assessment of the thoracic biometry which may further narrow down the diagnostic possibilities. The red flags or highlighting features of various conditions like polydactyly, hitch-hiker thumb deformity, ovoid tibia and absent fibula may lead to a specific diagnosis. Conclusion A background knowledge of various types of micromelia, their lethal nature, associations and specific features of various differential skeletal dysplasia will always be useful, if employed in a systematic manner.

Thanatophoric dysplasia in nonadherent to antenatal care in low middle income country: a rare case reports

“…To avoid misdiagnoses and erroneous information about the likelihood of recurrence and inadequate patient care professional clinical and radiologic assessment should be used to provide a final diagnosis in every case 13 , 17 . An assortment of two-dimensional and three-dimensional ultrasounds and the prenatal sonographic method help to determine abnormal skeletal characteristics and then analyze an array of findings to provide some proper differential diagnoses for providing optimal patient management (both fetal and maternal) and estimating recurrence risk 13 , 18 , 19 . Although it is challenging to do so in the remote area where the discussed case originated, a systematic and multidisciplinary approach is necessary when a mix of sonographic, genetic, histological, and autopsy studies are applied to make the most accurate diagnosis 19 .…”

“…An assortment of two-dimensional and three-dimensional ultrasounds and the prenatal sonographic method help to determine abnormal skeletal characteristics and then analyze an array of findings to provide some proper differential diagnoses for providing optimal patient management (both fetal and maternal) and estimating recurrence risk 13 , 18 , 19 . Although it is challenging to do so in the remote area where the discussed case originated, a systematic and multidisciplinary approach is necessary when a mix of sonographic, genetic, histological, and autopsy studies are applied to make the most accurate diagnosis 19 . Due to both financial constraints and the occurrence of a new mutation in the FGFR3 gene, which typically arises in individuals without any family history of the condition, we opted not to pursue chromosomal analysis and DNA molecular testing for FGFR3.…”