Parental consanguinity and the Majewski syndrome.
Open Access
- 1 April 1982
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 19 (2), 141-143
- https://doi.org/10.1136/jmg.19.2.141
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.This publication has 9 references indexed in Scilit:
- Short rib-polydactyly syndrome, Majewski typeAmerican Journal of Medical Genetics, 1980
- Non-Majewski short rib-polydactyly syndromeAmerican Journal of Medical Genetics, 1980
- Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: Report of a case and review of the literatureAmerican Journal of Medical Genetics, 1980
- Short rib-polydactyly syndrome, Majewski type, in two male siblingsHuman Genetics, 1979
- Prenatal diagnosis of recurrence of Saldino-Noonan dwarfismThe Journal of Pediatrics, 1977
- SEVERE THORACIC DYSTROPHY WITH STRIKING MICROMELIA, ABNORMAL OSSEOUS DEVELOPMENT, INCLUDING THE SPINE, AND MULTIPLE VISCERAL ANOMALIESAmerican Journal of Roentgenology, 1972
- [Polysyndactyly, short limbs, and genital malformations--a new syndrome?].1971
- Polysyndaktylie, verkürzte Gliedmaßen und Genitalfehlbildungen: Kennzeichen eines selbständigen Syndroms?European Journal of Pediatrics, 1971
- On Lumpers and Splitters, or the Nosology of Genetic DiseasePerspectives in Biology and Medicine, 1969