A syndrome with coarse face, mental retardation and unusual stereotyped movements

Abstract We describe a mentally retarded 24-year-old man followed by our group since age 18 months who exhibited nearly continuous stereotypic movements while awake. These movements, which have persisted over many years, consist of synchronous lateral flexion at the neck and waist. Movements could be partially voluntarily suppressed and disappeared in sleep. The patient has drug-resistant seizures and a constellation of dysmorphic features, including coarse face, large nose, large thin lips, brachicephaly, marked hirsutism on the face, and limbs proportionally smaller than the trunk, which suggests that the unusual stereotypic movements described may be part of a syndrome. Routine and full metabolic serum and urine analyses, full ophthalmological examination, internal organs ultrasound examination, full skeletal survey, standard karyotype and array-CGH analysis yielded normal results.