Short Rib-Polydactyly Syndrome Type II (Majewski Syndrome): A Case Report

R. Michael McCormac Department of Pathology, Medical College of Virginia, Virginia Commonwealth University, Richmond, Virginia, 23298

David B. Flannery Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond, Virginia, 23298; Department of Pediatrics, Children's Medical Center, Medical College of Virginia, Richmond, Virginia, 23298

Irene Imakoneczna Department of Pathology, Medical College of Virginia, Virginia Commonwealth University, Richmond, Virginia, 23298

Michael B. Kodroff Department of Radiology, Medical College of Virginia, Virginia Commonwealth University, Richmond, Virginia, 23298

Abstract

The Majewski type of Short Rib-Polydactyly syndrome is a rare lethal dwarfism syndrome that has recently been recognized as a distinct entity. The full range of associated anomalies remains to be described. This case report details the clinical and autopsy findings in this condition and reviews the differential diagnosis of polydactylous dwarfing syndromes.

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Short Rib-Polydactyly Syndrome Type II (Majewski Syndrome): A Case Report

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Short Rib-Polydactyly Syndrome Type II (Majewski Syndrome): A Case Report

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