Two brothers with severe developmental delay, growth retardation and unusual appearance.
We report on two brothers with short stature, severe developmental delay and unusual appearance. Several conditions including the Russell-Silver, Dubowitz, Floating-Harbour and Cockayne syndromes were considered in the differential diagnosis, but subsequently rejected. These two cases are likely to represent a new autosomal recessive or X-linked recessive syndrome.
Lemire
E G
EG
Division of Medical Genetics, University of Saskatchewan & Royal University Hospital, Saskatoon, Canada. lemiree@sdh.sk.ca
Stoeber
G P
GP
Anselmo
M
M
Lowry
R B
RB
D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005192:Family Health; D005808:Genes, Recessive; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D009679:Nuclear Family