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Pediatr Dev Pathol. 1998 Sep-Oct;1(5):405-12.

Morphologic observations in a case of lethal variant (type I) metatropic dysplasia with atypical features: morphology of lethal metatropic dysplasia.

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Department of Pathology, St. Louis Children's Hospital, Washington University Medical Center, MO 63110, USA.


Metatropic dysplasia accounts for approximately 5% of cases recorded by the International Skeletal Dysplasia Registry, with a single recorded lethal case. Four forms of the disease are currently recognized: type I, lethal autosomal recessive form; type II, nonlethal autosomal recessive form with survival to childhood; type III, autosomal dominant form with typical features, and type IV, a mild form with uncertain inheritance. The literature contains few well-documented reports of the histopathologic findings in metatropic dysplasia. In this report, we present the radiologic and histopathologic features in a cas e of type I metatropic dysplasia, with the unusual features of a persist ent tail, unique lung dysmorphology, and thyroidal agenesis.

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