Neuropediatrics 2009; 40(4): 186-188
DOI: 10.1055/s-0029-1243613
Short Communication

© Georg Thieme Verlag KG Stuttgart · New York

A Syndrome with Coarse Face, Mental Retardation and Unusual Stereotyped Movements[*]

P. Pavone1 , R. R. Trifiletti2 , E. Parano1 , 3 , M. Fichera4 , M. Ruggieri1 , 3
  • 1Department of Pediatrics, University of Catania, Italy
  • 2Department of Neurology, UMDNJ – New Jersey Medical School, Newark, New Jersey, USA
  • 3Institute of Neurological Science, National Research Council, Catania, Italy
  • 4Unit of Molecular Genetics, IRCSS Oasi M. Santissima, Troina, Italy
Further Information

Publication History

received 28.04.2008

accepted 30.11.2009

Publication Date:
09 February 2010 (online)


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.

1 The video of this patient is available from the authors upon request.


1 The video of this patient is available from the authors upon request.


Martino Ruggieri, MD, PhD 

National Research Council

Institute of Neurological Science

Viale R. Margherita, 6

95125 Catania


Phone: +39/95/378 2487

Fax: +39/95/551 582