🦴🦴Skeletal dysplasias by Dr.Coskun UMIT

🦴🦴Skeletal dysplasias represent a heterogeneous group of more than 450 chondro-osseous disorders, the more severe of which can be detected prenatally.
Birth incidence is nearly 1/5,000 overall, though each individual skeletal dysplasia is relatively rare. Although family history plays an important role in assessing risk of skeletal dysplasias, as many as 90% of dysplasias occur in the absence of any known parental risk factors. Thus, it is important to consider the diagnosis in any fetus with significantly shortened limbs.
Currently, the gold standard for diagnosis of a skeletal dysplasia includes a combination of antenatal ultrasound, postnatal radiologic features, pathology and cytogenetic evaluation. Of these, the fetal sonologist is often the first to suggest the presence of a skeletal dysplasia by US and should be able to determine lethality.
Here is a 28 weeks poor fetus with lethal skeletal dysplasia. You can see some of the classical features of most frequent lethal skeletal dysplasia. The baby has only one kidney with lying down adrenal sign on contralateral side (incidental finding).
Thank you for the case Haissam Aref