AUTOSOMAL-DOMINANT MICROCEPHALY WITH NORMAL INTELLIGENCE, SHORT PALPEBRAL FISSURES, AND DIGITAL ANOMALIES

We describe a family segregating an autosomal dominant mutation produc ing a syndrome comprising microcephaly with normal intelligence and sh ort palpebral fissures together with variable signs including thumb hy poplasia, shortness of the middle phalanges of the second and fifth fi ngers, small feet, a gap between the first and second toes, and mild s yndactyly of the toes or fingers. A characteristic radiologic finding in our family is thinning of the proximal end of the first metacarpal and shortening of that metacarpal. The severity of these findings was asymmetric in our patients. This syndrome is similar to patients descr ibed by Brunner and Winter [1991: J Med Genet 28: 389-394], Feingold [ 1975: Synd Ident 3:16-17, 1978: Hosp Prac 13:44-49], and Konig et al. [1990: Dysmorphol Clin Genet 4:83-86]. (C) 1997 Wiley-Liss, Inc.