The radiology of Coffin–Lowry syndrome

Abstract

The Coffin–Lowry syndrome is a rare disorder inherited as an X-linked condition, affecting men much more severely than women. The characteristics are mental retardation, skeletal abnormalities with short stature, hypermobile joints, loose skin, tapering fingers and dysmorphic facial features. The proband was referred for genetic assessment at the age of 15 years because of developmental delay with dysmorphic features. He was the first child of unrelated parents, and had a younger sister. His mother was said to be mildly educationally subnormal, but she came from a family of highly educated people, and there was no other family history of retardation (Fig. 1). His sister (aged 16 years) was of normal intelligence and had no dysmorphic features. The proband was induced at 36 weeks gestation because of placenta praevia in an otherwise normal pregnancy, and was healthy at birth (birth weight 5 lb 2 oz). His milestones were delayed, sitting at 18 months and only walking at 3 years of age, and making no meaningful sounds until the age of 2 years. He went into residential care for the moderately to severely retarded from 5 years of age, at which time he only had two or three words of speech. In his early teens he developed epilepsy in the form of “drop attacks”, which caused him to fall backwards to the ground; he would rise immediately afterwards.