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.

Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke–Davidoff–Masson type in two patients

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“…Array comparative genomic hybridization (aCGH) using the Human Genome CGH Micro array Kit 4 × 44 (Agilent Technologies, Palo Alto, CA), which consists of _44,000 60‐mer oligonucleotide probes that span both coding and non‐coding sequences with an overall median probe spatial resolution of 43 KB. Briefly, 750 ng of DNA from the test and a sex‐matched normal reference (NA15510 from Coriell Institute Cell Repository (National Institute of General Medical Sciences, Camden, NJ) was processed according to the manufacturer's protocol [Pavone et al, 2009]. The dye emission capture was performed by a dual‐laser scanner (Agilent Technologies); images were extracted using Agilent Feature Extraction Software 10.5 and analyzed by CGH Analytics 4.0 software (Agilent Technologies).…”