title: Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz.
abstract: This historical report focuses on the first clinical description of pseudoachondroplasia and its radiographic findings. Only half a century ago, pseudoachondroplasia was recognized as a genetic disorder with a distinct but variable phenotype of short stature, normal facial features, and progressive joint problems starting in adolescence. Radiologically, the disease is particularly intriguing because the patients appear normal at birth. The patients develop the typical gait disturbances when they begin to walk. Radiographs show the characteristic anterior tongue-shaped lumbar vertebral body changes that develop after the first year of life. This account presents the most well-known group of individuals affected by pseudoachondroplasia, the Ovitz family, who narrowly escaped death in the concentration camp of Auschwitz in 1944 because of SS physician Dr. Josef Mengele's fascination with dwarfs. It was not until 1995 that the underlying genetic defect in the COMP gene was identified on chromosome 19.
authors.affiliation: Division of Pediatric Surgery, Department of Surgery, Komansky Center for Children's Health, Weill Cornell Medical College, New York Presbyterian, 525 E. 68th St., New York, NY 10065, USA. oliver.muensterer@att.net
authors.forename: Oliver J
authors.initials: OJ
authors.lastname: Muensterer
authors.forename: Walter E
authors.initials: WE
authors.lastname: Berdon
authors.forename: Ralph S
authors.initials: RS
authors.lastname: Lachman
authors.forename: Stephen L
authors.initials: SL
authors.lastname: Done
mesh_terms: D000130:Achondroplasia / Q000235:genetics* / Q000266:history*; D064236:Cartilage Oligomeric Matrix Protein; D003209:Concentration Camps / Q000266:history*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D049673:History, 20th Century; D006801:Humans; D064235:Matrilin Proteins; D028683:National Socialism / Q000266:history*; D035781:Siblings; D017741:Survivors / Q000266:history*
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human