Lateral meningocele syndrome
| Lateral meningocele syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 130720 |
The lateral meningocele syndrome is a very rare skeletal disorder with facial anomalies, hypotonia and meningocele-related neurologic dysfunction.
History
This syndrome was first described by Lehman et al in 1977.[1] 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.
Clinical features
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.[2]
References
- ↑ Lehman RAW, Stears JC, Wesenberg RL, Nusbaum ED (1977) Familial osteosclerosis with abnormalities of the nervous system and meninges. J Pediat 90: 49-54
- ↑ Gripp, K. W.; Robbins, K. M.; Sobreira, N. L.; Witmer, P. D.; Bird, L. M.; Avela, K; Makitie, O; Alves, D; Hogue, J. S.; Zackai, E. H.; Doheny, K. F.; Stabley, D. L.; Sol-Church, K (2014). "Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome". American Journal of Medical Genetics Part A. 167A (2): 271–81. doi:10.1002/ajmg.a.36863. PMID 25394726.