Abstract
We report a female infant with the Majewski syndrome, one of a group of conditions characterised by short ribs, polydactyly, dwarfism, and early neonatal death. This syndrome seems to be extremely rare, with only five well documented cases reported and, including this case, nine recorded in all. The Majewski syndrome is considered to be recessively inherited, and this report adds further support to this hypothesis, as the infant was born to consanguineous parents.
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- Chen H., Yang S. S., Gonzalez E., Fowler M., Al Saadi A. Short rib-polydactyly syndrome, Majewski type. Am J Med Genet. 1980;7(2):215–222. doi: 10.1002/ajmg.1320070214. [DOI] [PubMed] [Google Scholar]
- Majewski F., Pfeiffer R. A., Lenz W., Müller R., Feil G., Seiler R. Polysyndaktylie, verkürzte Gliedmassen und Genitalfehlbildungen: Kennzeichen eines selbständigen Syndroms. Z Kinderheilkd. 1971;111(2):118–138. [PubMed] [Google Scholar]
- 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 Jul 18;49(3):269–275. doi: 10.1007/BF00569346. [DOI] [PubMed] [Google Scholar]
- Richardson M. M., Beaudet A. L., Wagner M. L., Malini S., Rosenberg H. S., Lucci J. A., Jr Prenatal diagnosis of recurrence of Saldino-Noonan dwarfism. J Pediatr. 1977 Sep;91(3):467–471. doi: 10.1016/s0022-3476(77)81327-9. [DOI] [PubMed] [Google Scholar]
- 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]
- 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]
- Yang S. S., Lin C. S., Al Saadi A., Nangia B. S., 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(2):205–213. doi: 10.1002/ajmg.1320070213. [DOI] [PubMed] [Google Scholar]