Download PDF
CC BY-NC-ND 4.0 · Indian J Radiol Imaging 2010; 20(02): 138-142
DOI: 10.4103/0971-3026.63044
Obstetric

Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome)

Pramod Setty Jutur
Department of Radio Diagnosis, J. J. M. Medical College, Davangere - 577 004, Karnataka, India
,
Chandan Pramod Kumar
Department of Radio Diagnosis, J. J. M. Medical College, Davangere - 577 004, Karnataka, India
,
Shetteppa Goroshi
Department of Radio Diagnosis, J. J. M. Medical College, Davangere - 577 004, Karnataka, India
› Author Affiliations
› Further Information
  PDF Download Permissions and Reprints

Abstract

Short rib polydactyly syndrome (SRPS) type 2 (Majewski syndrome) is a rare inherited, autosomal recessive, lethal skeletal dysplasia characterized by horizontally located short ribs, pre- and postaxial polysyndactyly, and micromelia, with characteristic short ovoid tibiae. There may or may not be visceral involvement. We report a case of SRPS type 2 that was diagnosed by antenatal USG at 28 weeks of gestation; the diagnosis was subsequently confirmed by postnatal radiography, fetal autopsy, and histopathology.

Keywords

Majewski syndrome - short rib polydactyly syndrome type 2 - short ovoid tibia


Publication History

Article published online:
02 August 2021

© 2010. Indian Radiological Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

Thieme Medical and Scientific Publishers Private Ltd.
A-12, Second Floor, Sector -2, NOIDA -201301, India

 

  • References

  • 1 Goncalves LF, Kusanovic JP, Gotsch F, Espinoza J, Romero R. The fetal musculoskeletal system. 5 th ed. Ultrasonography in obstetrics and gynecology. In: Callen PW, editor. Nodia: Saunders; 2009. p. 457-9.
  • 2 Bernstein R, Isdale J, Pinto M, Du Toit Zaaijman J, Jenkins T. Short rib polydactyly syndrome: A single or heterogeneous entity? A re-evaluation prompted by four new cases. J Med Genet 1985;22:46-53.
  • 3 Bianchi DW, Crombleholme TM, D′Alton ME. Short rib polydactyly syndrome. In: Medina M, editor. Fetology: Diagnosis and management of the fetal patient. 1 st ed. New York: McGraw-Hill; 2000. p. 743.
  • 4 Lachman RS. Skeletal dysplasias. In: McAteer M, editor. Taybi and Lachman′s radiology of syndromes, metabolic disorders, and skeletal dysplasias. 5 th ed. Philadelphia: Mosby; 2007. p. 1054.
  • 5 Urioste M, Martνnez-Frνas ML, Bermejo E, Jimιnez N, Romero D, Nieto C, et al. Short rib-polydactyly syndrome and pericentric inversion of chromosome. Am J Med Genet 1994;49:94-7.
  • 6 Nair V, Prakash KL, Bhat BV. Short rib polydactyly syndrome-type 2 (Majewski). Indian J Pediatr 2007;74:1029-31.
  • 7 Paladini D, Volpe P. Skeletal dysplasia and muscular anomalies. In: Paladini D, editor. Ultrasound of congenital fetal anomalies. 1st ed. London: Informa Healthcare; 2007. p. 293.
  • 8 Gilbert-Barness E, Debich-Spicer DE. Skeletal system. 1st ed. Handbook of Pediatric Autopsy Pathology. In: Breaugh MJ, editor. Totowa: Humana press; 2005.388.
  • 9 Myong NH, Park JW, Chi JG. Short rib polydactyly syndrome, beemer langer type with bilateral huge polycystic renal dysplasia. J Korean Med Sci 1998;13:201-6.
  • 10 Tόrkmen M, Temoηin K, Acar C, Levi E, Karaman C, Inan G, et al. Short rib-polydactyly syndrome: A case report. Turk J Pediatr 2003;45:359-62.
  • 11 Bianchi DW, Crombleholme TM, D′Alton ME. Short rib polydactyly syndrome. 1st ed. Fetology: Diagnosis and Management of the Fetal Patient. In: Medina M, editor. New york: McGraw-hill; 2000. p. 748.
  • 12 Romero R, Pilu G, Jeanty P, Ghidini A, Hobbins JC. Skeletal Dysplasias Prenatal diagnosis of congenital anomalies. In: Bieber FR, editor. East Norwalk: Appleton and Lange; 1988. p. 346.