Partington M, Anderson D
Newcastle and Northern New South Wales Genetics Service, Australia.
Am J Med Genet. 1994 Jan 15;49(2):247-50. doi: 10.1002/ajmg.1320490218.
We describe a brother and sister from one family and a girl from a second, unrelated family; they have a syndrome of pre- and post-natal growth deficiency, developmental delay, a friendly personality, microcephaly, and a distinctive facial appearance marked by thick eyebrows, full cheeks, and a short nose with the columella inserted below the nasal alae. We think this is a new syndrome probably inherited as an autosomal recessive trait.