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. 1993 Nov;30(11):937–941. doi: 10.1136/jmg.30.11.937

Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.

M L Martínez-Frías 1, E Bermejo 1, M Urioste 1, H Huertas 1, I Arroyo 1
PMCID: PMC1016603  PMID: 8301649

Abstract

We report two new unrelated infants with short rib-polydactyly syndrome (SRPS) whose clinical and radiological features overlap the four established forms of lethal SRPS, so that it is difficult to classify them into any one particular type. One of the babies had one of the most radiologically severe SRPS ever published. The patients presented here support the previously reported hypothesis that this group of disorders might be a continuous spectrum rather than separate entities.

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Selected References

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  1. Beemer F. A., Langer L. O., Jr, Klep-de Pater J. M., Hemmes A. M., Bylsma J. B., Pauli R. M., Myers T. L., Haws C. C., 3rd A new short rib syndrome: report of two cases. Am J Med Genet. 1983 Jan;14(1):115–123. doi: 10.1002/ajmg.1320140116. [DOI] [PubMed] [Google Scholar]
  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 Feb;22(1):46–53. doi: 10.1136/jmg.22.1.46. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Bidot-López P., Ablow R. C., Ogden J. A., Mahoney M. J. A case of short rib polydactyly. Pediatrics. 1978 Mar;61(3):427–432. doi: 10.1542/peds.61.3.427. [DOI] [PubMed] [Google Scholar]
  4. Cherstvoy E. D., Lurie I. W., Shved I. A., Lazjuk G. I., Ostrowskaya T. I., Usoev S. S. Difficulties in classification of the short rib-polydactyly syndromes. Eur J Pediatr. 1980;133(1):57–61. doi: 10.1007/BF00444756. [DOI] [PubMed] [Google Scholar]
  5. Hennekam R. C. Short rib syndrome--Beemer type in sibs. Am J Med Genet. 1991 Aug 1;40(2):230–233. doi: 10.1002/ajmg.1320400221. [DOI] [PubMed] [Google Scholar]
  6. Lin A. E., Doshi N., Flom L., Tenenholz B., Filkins K. L. Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome. Am J Med Genet. 1991 Jun 1;39(3):247–251. doi: 10.1002/ajmg.1320390303. [DOI] [PubMed] [Google Scholar]
  7. Nivelon-Chevallier A., Halfon D., Mabille J. P. Chondrodysplasie létale à côtes courtes type Majewski. Diagnostic in utero. Pediatrie. 1982 Sep;37(6):453–459. [PubMed] [Google Scholar]
  8. Rodríguez J. I., Gamallo C., Cuevas J., Pastor I., Collado F. Síndrome de costilla corta-polidactilia con malformaciones viscerales múltiples. An Esp Pediatr. 1980 Sep;13(9):805–810. [PubMed] [Google Scholar]
  9. Saldino R. M., Noonan C. D. Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies. Am J Roentgenol Radium Ther Nucl Med. 1972 Feb;114(2):257–263. doi: 10.2214/ajr.114.2.257. [DOI] [PubMed] [Google Scholar]
  10. Sharma A. K., Phadke S., Chandra K., Upreti M., Khan E. M., Naveed M., Agarwal S. S. Overlap between Majewski and hydrolethalus syndromes: a report of two cases. Am J Med Genet. 1992 Aug 1;43(6):949–953. doi: 10.1002/ajmg.1320430609. [DOI] [PubMed] [Google Scholar]
  11. Sillence D. O. Non-Majewski short rib-polydactyly syndrome. Am J Med Genet. 1980;7(2):223–229. doi: 10.1002/ajmg.1320070215. [DOI] [PubMed] [Google Scholar]
  12. 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 Jan 17;116(2):73–94. doi: 10.1007/BF00491508. [DOI] [PubMed] [Google Scholar]
  13. Tsai Y. C., Chang J. M., Changchien C. C., Eng H. L., Chen W. J., Lui C. C., Huang C. B. Unusual short rib-polydactyly syndrome. Am J Med Genet. 1992 Sep 1;44(1):31–36. doi: 10.1002/ajmg.1320440108. [DOI] [PubMed] [Google Scholar]
  14. Verma I. C., Bhargava S., Agarwal S. An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydacytly and genital anomalies. Birth Defects Orig Artic Ser. 1975;11(6):167–174. [PubMed] [Google Scholar]
  15. Walley V. M., Coates C. F., Gilbert J. J., Valentine G. H., Davies E. M. Brief clinical report: short rib-polydactyly syndrome, Majewski type. Am J Med Genet. 1983 Mar;14(3):445–452. doi: 10.1002/ajmg.1320140307. [DOI] [PubMed] [Google Scholar]
  16. Yang S. S., Roth J. A., Langer L. O., Jr Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome. Am J Med Genet. 1991 Jun 1;39(3):243–246. doi: 10.1002/ajmg.1320390302. [DOI] [PubMed] [Google Scholar]

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