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Lateral meningocele syndrome

Abstract

The lateral meningocele syndrome is a very rare skeletal disorder with facial anomalies, hypotonia and meningocele-related neurologic dysfunction.

Presentation

Facial features found in this syndrome include

- dolichocephaly

- hypertelorism

- ptosis

- microretrognathia

- high arched palate

- long flat philtrum

- low set ears

Non facial features of this syndrome include

- hyperextensibility

- hypotonia

- lateral meningoceles

The lateral meningocoles are a common finding in this syndrome. They may be associated with neurological abnormalities and result in bladder dysfunction and neuropathy.

Genetics

This syndrome appears to be inherited in an autosomal dominant fashion.

Molecular analyses suggest that the causative mutations cause a truncation of the protein. These mutations result in the loss of PEST sequence in the protein. This loss is associated with a prolonged half life of the protein.

Mutations in Notch 3 were found to be associated with this syndrome.

History

This syndrome was first described by Lehman et al. in 1977. This paper described a 14-year-old girl with a number of unusual findings. Her mother shared some of the same findings. Since then over a dozen additional cases have been reported.