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Holoprosencephaly Type 8
HPE8

Presentation

Semilobar holoprosencephaly The basic structure of the cerebral lobes are present but are fused most commonly anteriorly and at the thalami. [radiopaedia.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]

Treatment

Treatment and prognosis The prognosis is dependent on the type of HPE with almost all alobar and semilobar forms incompatible with extrauterine life. There may be recurrence risk for ~6% with non-chromosomal sporadic HPE. [radiopaedia.org]

Prognosis

Treatment and prognosis The prognosis is dependent on the type of HPE with almost all alobar and semilobar forms incompatible with extrauterine life. There may be recurrence risk for ~6% with non-chromosomal sporadic HPE. [radiopaedia.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]

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