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Holoprosencephaly Causes

The cause of holoprosencephaly is currently not known. Suggested risk factors include maternal diabetes, infections during pregnancy (toxoplasmosis, syphilis, rubella, herpes, cytomegalovirus), and various drugs taken during pregnancy (alcohol, aspirin, lithium, thorazine, anticonvulsants, hormones, retinoic acid).

Holoprosencephaly Definition

Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the embryonic forebrain) to adequately divide into the double lobes of the cerebral hemispheres. This results in a single-lobed brain structure and severe skull and facial defects. In majority of cases of holoprosencephaly, the malformations are so severe that babies die before birth. In less severe cases, babies are born with normal or near-normal brain development and facial deformities that may affect the noce, eyes, and upper lip.

Holoprosencephaly Diagnosis

MR imaging is an excellent tool for diagnosing congenital malformations of the brain. Such malformations cannot be reliably distinguished or classified without an insight into the basic processes of the fetal development of the brain.

Holoprosencephaly Symptoms and Signs

Symptoms of holoprosencephaly vary from mild (no facial/organ defects, anosmia, or only a single central incisor) to moderate (cleft lip or palate) to severe (synophthalmia proboscis or cyclopia).

Holoprosencephaly Treatment

There is no known standard course of treatment for holoprosencephaly. Treatment for holoprosencephaly is supportive and symptomatic.

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