Total anonychia congenita and microcephaly with normal intelligence: a new autosomal-recessive syndrome?Am J Med Genet. 1996 Dec 18; 66(3):257-60.AJ
We report on 3 sibs (2 boys and a girl) with a previously apparently unrecognized combination of anonychia congenita and microcephaly with normal intelligence. The shape of the head is normal. Other anomalies include clinodactyly of the fifth fingers and bilateral single transverse palmar creases. Skeletal survey was normal in the 2 older children. These children and their first-cousin Iranian parents have widely spaced teeth. The children's first cousin also has total anonychia congenita and apparently small head. We review anonychia congenita, and conclude that the presently reported family with a "new autosomal-recessive disorder" provides further evidence of the heterogeneity of this condition.