Fig. 1

Phenotypic features of patient described in this study. a and b The patient 4 years old. Note slightly arched eyebrows and synophridia, a square tip to his nose, normal columella, prominent two front teeth, normal tooth number and absence of characteristic grimace of Rubinstein–Taybi syndrome. c The fine hairs on the front of the ear and on the cheek are hair whorl. d and e The child has heavy fine hair on her back and opisthenar. f Patient has no broad or angulated thumbs, nor broad distal phalanges of the fingers, as seen in patients with Rubinstein–Taybi syndrome. g Girl has a sixth toe of her left foot, that hexadactyly