MORPHOLOGIC OBSERVATIONS IN A CASE OF LETHAL VARIANT (TYPE-I) METATROPIC DYSPLASIA WITH ATYPICAL FEATURES - MORPHOLOGY OF LETHAL METATROPICDYSPLASIA

Metatropic dysplasia accounts for approximately 5% of cases recorded b y the International Skeletal Dysplasia Registry, with a single recorde d lethal case. Four forms of the disease are currently recognized: typ e I, lethal autosomal recessive form; type II, nonlethal autosomal rec essive form with survival to childhood; type III, autosomal dominant f orm with typical features, and type IV, a mild form with uncertain inh eritance. The literature contains few well-documented reports of the h istopathologic findings in metatropic dysplasia. In this report, we pr esent the radiologic and histopathologic features in a case of type I metatropic dysplasia, with the unusual features of a persistent tail, unique lung dysmorphology, and thyroidal agenesis.