Abstract
Möbius syndrome is characterized by congenital facial diplegia, and may be associated with limb or orofacial malformations. A number of mechanisms have been proposed to explain the pathogenesis, including prenatal ischemia. We identified seven children with Möbius syndrome over the 10-year interval 1992-2001, all of whom manifested incomplete bilateral facial palsy. Associated limb and orofacial anomalies were observed in six cases. Computed tomographic scans were available in six children, and five of them manifested brainstem calcification which was most prominent in the floor of the fourth ventricle. The calcification was detected as early as 7 days of age and did not change with time, suggesting a static condition of prenatal onset. These observations support the hypothesis that the pathology in Möbius syndrome is secondary to prenatal brain ischemia.
| Original language | English |
|---|---|
| Pages (from-to) | 39-41 |
| Number of pages | 3 |
| Journal | Pediatric Neurology |
| Volume | 30 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jan 2004 |
Bibliographical note
Funding Information:This work has been supported by “Fondazione Telethon Italia” grant 297/bi, the Italian Ministry of Health, “Ricerca Finalizzata, 1996,” and the Medical Research Council of Canada (MRC). We are grateful to patients and families who provided samples for our analysis. The authors would also like to acknowledge Peter Heutink, Carol Stayton, Massimiliano Agnelli, Silvia Presi, Elena Rossi, Roberta Cinti, and the PRIMM Sequencing Facility, for technical support, and Drs. Jean Michel Guys, Armando Cama, Margherita Lerone, Romeo Carrozzo, Victoria Maria Siu, and Hironao Numabe, for clinical evaluation. L.-C. T. is a Senior Scientist, and S.W.S. is a Scholar, of the MRC.
ASJC Scopus Subject Areas
- Pediatrics, Perinatology, and Child Health
- Neurology
- Developmental Neuroscience
- Clinical Neurology
PubMed: MeSH publication types
- Journal Article