Presentation
Presentation Holoprosencephaly, once called arhinencephaly, consists of a spectrum of defects or malformations of the brain and face. [wikidoc.org]
Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature. Am. J. Med. Genet. C Semin. Med. Genet., 154C(1):15869, 2010. [ Links ] Lacbawan, F.; Solomon, B. [scielo.cl]
Entire Body System
- Disability
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Neurologic
- Seizure
Seizures and mental retardation may occur. [wikidoc.org]
Treatment
Directions to Hospitals Treating Holoprosencephaly Risk calculators and risk factors for Holoprosencephaly Healthcare Provider Resources Symptoms of Holoprosencephaly Causes & Risk Factors for Holoprosencephaly Diagnostic studies for Holoprosencephaly Treatment [wikidoc.org]
Prognosis
Prognosis The more severe forms of holoprosencephaly are usually fatal. [wikidoc.org]
Etiology
Current perspectives on the etiology of agnathia-otocephaly. Eur. J. Med. Genet., 53(6):358-66, 2010. [ Links ] Geng, X. & Oliver, G. Pathogenesis of holoprosencephaly. J. Clin. Invest., 119(6):1403-13, 2009. [ Links ] Golinko, M. [scielo.cl]
Epidemiology
Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research. Am. J. Med. Genet. C Semin. Med. [scielo.cl]