Mild growth retardation and developmental delay, microcephaly, and a distinctive facial appearance.
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.
Partington
M
M
Newcastle and Northern New South Wales Genetics Service, Australia.
Anderson
D
D
D000015:Abnormalities, Multiple; D002648:Child; D002658:Developmental Disabilities; D005145:Face / Q000002:abnormalities*; D005149:Facial Expression; D005260:Female; D005317:Fetal Growth Retardation; D006130:Growth Disorders; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010551:Personality; D013577:Syndrome