An apparently new syndrome of microcephalic primordial dwarfism and cataracts.
We describe two sibs with prenatal-onset growth deficiency, microcephaly, cataracts, mental retardation, enamel hypoplasia, immune deficiency, and generalized delay of ossification. The combination appears to constitute a previously undescribed autosomal recessive syndrome.
D002386:Cataract / Q000235:genetics*; D002675:Child, Preschool; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008831:Microcephaly / Q000235:genetics*; D010012:Osteogenesis; D013577:Syndrome