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Pediatric Pathology Volume 2, 1984 - Issue 4
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Original Article

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
Pages 457-467 | Received 30 Apr 1983, Accepted 08 Jan 1984, Published online: 09 Jul 2009

References

  • Majewski F, Pfeiffer RA, Lenz W, Müller R, Feil G, Seiler R. Polysyndactylie, verkürzte Gliedmassen und Genitalfehlbildungen: Kennzeichen eines selbstandigen Syndroms?. Z Kinder-heilkd 1971; 111: 118–138
  • Spranger J, Grimm B, Weller M, Weissenbacher G, Herrmann J, Gilbert E, Krepler R. Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan. Z Kinderheilkd 1974; 116: 73–94
  • Rimoin DL. International nomenclature of constitutional disease of bone. J Pediatr 1978; 93: 614–616
  • Saldino RM, Noonan CD. Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies. Am J Radiol 1972; 114: 275–263
  • Naumoff P, Young IW, Mazer J, Amortegui AJ. Short rib-polydactyly syndrome type 3. Radiology 1977; 122: 443–447
  • Bergstrom K, Gustavson K-H, Jorulf H, Sundstrom C. A case of Majewski syndrome with pathoanatomic examination. Skeletal Radiol 1979; 4: 134–140
  • Chen H, Yang SS, Gonzalez E, Fowler M, Al Saadi A. Short rib-polydactyly syndrome, Majewski type. Am J Med Genet 1980; 7: 215–222
  • Motegi T, Kusunoki M, Nishi T, Hamada T, Sato N, Imamura T, Mohri N. Short rib-polydactyly syndrome, Majewski type, in two male siblings. Hum Genet 1979; 49: 269–275
  • Temtamy S, McKusick VA. Majewski syndrome (Syn: short rib-polydactyly syndrome, Majewski type). Birth Defects 1978; XIV(3)429–437
  • Black IL, Fitzsimmons J, Fitzsimmons E, Thomas AJ. Parental consanguinity and the Majewski syndrome. J Med Genet 1982; 19: 141–143
  • Cooper CP, Hall CM. Lethal short rib-polydactyly syndrome of the Majewski type: A report of three cases. Pediatr Radiol 1982; 144: 513–517
  • Walley VM, Coates CC, Gilbert JJ, Valentine H, Davis EM. Brief clinical report: Short rib-polydactyly syndrome, Majewski type. Am J Med Genet 1983; 14: 445–452
  • Spranger J, Langer LO, Weller MH, Herrmann J. Short rib-polydactyly syndromes and related conditions. Birth Defects 1974; X(9)117–123
  • Bhatnagar RS, Rapaka RS. Interference with steps in collagen synthesis as a biochemical mechanism of teratogenesis. Abnormal Embryogenesis: Cellular and Molecular Aspects, T VN Persaud. University Park Press, Baltimore 1979; 29–49
  • Smith DW. Recognizable Patterns of Human Malformation3d ed. WB Saunders, Philadelphia 1982
  • Breemer FA, Langer LO, Klep-de Pater JM, Hemmes AM, Bylsma JB, Pauli RM, Myers TL, Haws CC. A new short rib syndrome: Report of two cases. Am J Med Genet 1983; 14: 115–123
  • Hall JG, Pallister PD, Clarren SK, Beckwith JB, Wiglesworth FW, Fraser FC, Cho S, Benke PJ, Reed SD. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial Polydactyly–A new syndrome? Part 1, Clinical, causal, and pathogenetic considerations. Am J Med Genet 1980; 7: 47–74
  • Yang SS, Iin CS, Al Saadi A, Nangia BS, Bernstein J. Short rib-Polydactyly syndrome, type 3 with chondrocytic inclusions: Report of a case and review of the literature. Am J Med Genet 1980; 7: 205–213
  • Sillence DO. Invited editorial comment: Non-Majewski short rib-polydactyly syndrome. Am J Med Genet 1980; 7: 223–229

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