Parental consanguinity and the Majewski syndrome.
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.
D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics*; D000328:Adult; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D012272:Ribs / Q000002:abnormalities; D013577:Syndrome; D014034:Toes / Q000002:abnormalities