Literature DB >> 22426567

Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz.

Oliver J Muensterer1, Walter E Berdon, Ralph S Lachman, Stephen L Done.   

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.

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Year:  2012        PMID: 22426567     DOI: 10.1007/s00247-012-2364-8

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  16 in total

1.  Pseudoachondroplasia, a report of 13 cases.

Authors:  N G Heselson; B J Cremin; P Beighton
Journal:  Br J Radiol       Date:  1977-07       Impact factor: 3.039

2.  Natural history study of pseudoachondroplasia.

Authors:  J McKeand; J Rotta; J T Hecht
Journal:  Am J Med Genet       Date:  1996-05-17

3.  Bilateral total hip replacement in pseudoachondroplasia.

Authors:  D C Wirtz; K Birnbaum; C H Siebert; K D Heller
Journal:  Acta Orthop Belg       Date:  2000-10       Impact factor: 0.500

Review 4.  Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence era.

Authors:  Shiro Ikegawa
Journal:  J Hum Genet       Date:  2006-05-03       Impact factor: 3.172

5.  Mortality in achondroplasia study: a 42-year follow-up.

Authors:  Julia Wynn; Terri M King; Michael J Gambello; D Kim Waller; Jacqueline T Hecht
Journal:  Am J Med Genet A       Date:  2007-11-01       Impact factor: 2.802

6.  Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19.

Authors:  M D Briggs; I M Rasmussen; J L Weber; J Yuen; K Reinker; A P Garber; D L Rimoin; D H Cohn
Journal:  Genomics       Date:  1993-12       Impact factor: 5.736

7.  Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. A review of 32 patients (26 kindreds).

Authors:  R Wynne-Davies; C M Hall; I D Young
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

Review 8.  Pseudoachondroplastic dysplasia.

Authors:  A Khungar; P Mahajan; G Gupte; M Vasundhara; A Kher; B A Bharucha
Journal:  J Postgrad Med       Date:  1993 Apr-Jun       Impact factor: 1.476

9.  Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.

Authors:  J T Hecht; L D Nelson; E Crowder; Y Wang; F F Elder; W R Harrison; C A Francomano; C K Prange; G G Lennon; M Deere
Journal:  Nat Genet       Date:  1995-07       Impact factor: 38.330

Review 10.  Achondroplasia: manifestations and treatment.

Authors:  Eric D Shirley; Michael C Ain
Journal:  J Am Acad Orthop Surg       Date:  2009-04       Impact factor: 3.020

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  2 in total

Review 1.  Windswept Deformity a Disease or a Symptom? A Systematic Review on the Aetiologies and Hypotheses of Simultaneous Genu Valgum and Varum in Children.

Authors:  Niels J Jansen; Romy B M Dockx; Adhiambo M Witlox; Saartje Straetemans; Heleen M Staal
Journal:  Children (Basel)       Date:  2022-05-10

2.  Mutant COMP shapes growth and development of skull and facial structures in mice and humans.

Authors:  Alexander Burger; Jasmien Roosenboom; Mohammad Hossain; Seth M Weinberg; Jacqueline T Hecht; Karen L Posey
Journal:  Mol Genet Genomic Med       Date:  2020-04-28       Impact factor: 2.473

  2 in total

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