During the brief period human karyotypes have been documented, only a few clinical syndromes have had repeated and consistent association with certain autosomal abnormalities. Such associations have been confirmed with the D(13-15),1,2 E(18),3,4 and G(21)5,6 trisomies in addition to partial trisomies, ie, oral-facial-digital syndrome, and Sturge-Weber syndrome.7 This scarcity does not detract from the importance of documenting chromosomal abnormalities found in association with unusual phenotype but does require careful consideration in interpreting these associations. Even more important is the necessity for repeated observation and documentation to resolve the correctness of the interpretations given in each case.
Recently, Lejeune et al8 reported an additional clinical syndrome associated with an autosomal abnormality which appeared consistently in three similar cases. All three infants demonstrated microcephaly, microand retrognathia, bilateral epicanthus, hypertelorism, failure to thrive, a "cat-like" cry (Lejeune reported a deformed larynx), and mental retardation. These anomalies were associated
DUMARS KW, GASKILL C, KITZMILLER N. Le Cri du Chat (Crying Cat) Syndrome. Am J Dis Child. 1964;108(5):533-537. doi:10.1001/archpedi.1964.02090010535013