The Neu-COFS (cerebro-oculo-facio-skeletal) syndrome: report of a case.
A newborn female with a phenotype intermediate between the Neu and the COFS syndromes is described. The hypothesis of the two conditions representing different degrees of severity of the same autosomal recessive mutation in the homozygote state is discussed.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D003286:Contracture / Q000235:genetics*; D005149:Facial Expression; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007596:Joints / Q000002:abnormalities*; D008831:Microcephaly / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome