Autosomal recessive microcephaly and micromelia in Cree Indians.
In a highly consanguineous, predominantly Cree Indian community in northern Saskatchewan, Canada, 14 similarly malformed babies have been born to eight different mothers since 1953. Six of these infants are reported to assist delineation of the syndrome. The major manifestations of the condition are: Intrauterine growth retardation, perinatal death, marked microcephaly, and severe malformations of the limbs, especially the arms. Elbows are fused, forearms are greatly shortened and usually contain only a single bone, and the hands are very abnormal with only two to four malformed digits. Parental consanguinity, a sex ratio close to one, and a 25% segregation ratio all support autosomal recessive inheritance of this syndrome.
D003241:Consanguinity; D004480:Ectromelia / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007198:Indians, North American; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012525:Saskatchewan; D013577:Syndrome