Distinctive autosomal or X-linked dominant syndrome of microcephaly, mild developmental delay, short stature, and distinctive face

Abstract

We report on a mother and two sons with a syndrome of microcephaly, short stature, a distinctive face, broad thumbs and great toes, and mild developmental delay. There are similarities to the patients reported by Bawle and Horton [Am J Med Genet 33:382-384, 1989] and Evans [Clin Genet 39:178-180, 1991] but it is not certain whether the patients have the same condition. Inheritance could either be autosomal or X-linked dominant.